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Parkinson's disease is a common neurogenetic degenerative disease that can be caused by a variety of genetic mutations. RAB39B gene mutations have recently been identified as a cause of Parkinson's disease. We collected skin tissue samples from a family with mutations in RAB39B for our clinical study. Additionally, we constructed patient-derived induced pluripotent stem cells (iPSCs) from the patient’s uncle using an unintegrated reprogramming plasmid transfection method to create a reliable cell model for the subsequent study of Parkinson's disease.

Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disease caused by CAG repeat expansion of the ATXN3 gene encoding ataxin-3 protein and is mainly manifested by motor symptoms such as ataxia and non-motor symptoms such as cognitive dysfunction. In this study, we obtained skin fibroblasts from a SCA3 patient and successfully constructed induced pluripotent stem cells (iPSCs) using the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The generated iPSC line had a stable karyotype, expressed pluripotency markers, and could differentiate into all three germ layers in vitro. In addition, the iPSC line may be a useful model for identifying SCA3-related pathological mechanisms.

Alzheimer’s disease (AD) is a neurodegenerative disease that manifests mainly as cognitive, behavioral, and neuropsychiatric changes and impairs social functions and activities of daily living. The β-amyloid precursor protein (APP) gene is one of the most common pathogenic genes associated with AD. We isolated dermal fibroblasts from a 51-year-old woman with an APP gene mutation (c.1756G > A). The induced pluripotent stem cells (iPSCs) were successfully constructed by transferring the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The generated iPSC line was pluripotent, as verified by immunofluorescence, flow cytometry, and teratoma formation test. The iPSC line will have broad prospects in drug screening, cell transplantation, and gene therapy.

The research on nervous system diseases is limited by the difficulty in obtaining nerve cells from humans. The development of induced pluripotent stem cells (iPSCs) technology and the experimental system provide a feasible method for directional induced differentiation of nerve cells in vitro. In this project, we recruited a 50-year-old Han Chinese man as a healthy volunteer, and successfully constructed his skin fibroblast-derived iPSCs using the non-integrated reprogramming method. At the same time, the related pluripotency identification experiments were completed. This cell line will be included in the normal control group in follow-up experiments, providing an important reference for the study of neurological diseases.

Skin fibroblasts were donated by a healthy 52-year-old Han Chinese woman. The induced pluripotent stem cell (iPSC) line was constructed using an episomal reprogramming method that made the generated iPSCs integration-free. This iPSC line expressed the common pluripotency markers, could be differentiated into three germ layers, and showed normal karyotype in vivo. The iPSC line can be used to generate different cell types, which could be used as a control in drug development and studies on pathological mechanisms.

Ataxia is a common clinical symptom of neurodegenerative diseases, such as spinocerebellar ataxia, Parkinson’s disease. Spinocerebellar ataxia includes more than 40 types. In clinical work, we collected the clinical data and skin tissue of one patient with SCA6 who have definitive genetic test results. More than that, we reprogrammed the patient derived fibroblast cells to induced pluripotent stem cells (iPSCs) to construct a SCA6 pathological cell model. The cell line was proved having good pluripotency through detection of pluripotent marker and teratoma formation. This iPS cell line is a special cell model for revealing mechanism and identifying potential therapeutic targets.

Dermal fibroblasts obtained from a 43-year-old healthy man were successfully transformed into induced pluripotent stem cells (iPSCs) by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and l-MYC. The iPSCs showed a normal karyotype and exhibited the potential to differentiate into three germ layers in a teratoma assay, which is often used to assess the pluripotency of stem cells. This iPSC line may be subsequently used for drug screens, biological tissue engineering, and cell transplantations.

Myotonic dystrophy type 1 (DM1) is a dominantly inherited neurodegenerative disease caused by a CTG repeat expansion close to the DMPK gene. The fibroblasts from a patient with DM1 were successfully converted to induced pluripotent stem cells (iPSCs), designated ZZUi006-A, by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, L-MYC. The ZZUi006-A cell line may provide a robust platform for further study of DM1 pathogenesis as well as drug testing and gene therapy research.

CHCHD2 mutation has been reported as a potential cause of a rare form of familial Parkinson's disease. Recently, a novel CHCHD2 mutation was identified in a family with Parkinson's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells(iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our model may offer a good platform for further research on the pathomechanism, drug testing, and gene therapy of this disease. Resource table: Unlabelled TableUnique stem cell line identifierZZUi007-AAlternative name(s) of stem cell lineZZU-iPS-PD-CHCHD2–001InstitutionDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou UniversityContact information of distributorYuming Xu xuyuming@zzu.edu.cnType of cell lineiPSCOriginHumanAdditional origin infoAge: 52Sex: MaleEthnicity: Han ChineseCell SourceHuman skin fibroblastsMethod of reprogrammingElectroporated with episomal plasmidsGenetic ModificationNOType of ModificationN/AAssociated diseaseParkinson's diseaseGene/locusCHCHD2/c.182C > T (p.Thr61Ile)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateJuly 2017Cell line repository/bankN/AEthical approvalThis study was approved by the medical research ethics committee of the First Affiliated Hospital of Zhengzhou University (NO. 2016-007). Resource utility: CHCHD2 mutation has been shown to be associated with Parkinson's disease (PD) (Shi et al., 2016). Induced pluripotent stem cells (iPSCs), generated from a patient harboring a CHCHD2 mutation, may provide an ideal cell model for exploring the pathogenesis of this disease and aid in drug screening. Resource details: Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by resting tremors, muscular rigidity, bradykinesia, and postural instability. Previous studies have revealed that parkinsonism can be caused by mutations in several genes including parkin, PTEN-induced putative kinase protein 1 (PINK1), parkinsonism-associated deglycase (DJ1), and ATPase 13A2 (ATP13A2) (Bonifati, 2014). In this study, a novel CHCHD2 mutation was identified in a family with Parkinson's disease (Shi et al., 2016), and the fibroblasts of the patient were successfully transformed into iPSCs. Episomal plasmids were used to generate the ZZUi007-A iPSC line (Fig. 1A). Pluripotency markers were examined via immunocytochemical staining using antibodies against human OCT-4, TRA-1-60 and Nanog (Fig. 1B). Flow cytometric analysis showed that more than 99% of the cells expressed OCT-4 and TRA-1-60 (Fig. 1C). The karyotype of CHCHD2–01 iPSCs was numerically and structurally normal (Fig. 1D). The mutation (c.182C > T; p.Thr61Ile) in CHCHD2 was confirmed by Sanger sequencing in the newly established iPSC line (Fig. 1E). Episomal plasmids were detected by polymerase chain reaction (PCR) using episomal plasmid-specific primers and disappeared from passage 15 (Fig. 1F). Furthermore, the iPSC line had the potential to differentiate into cells of all three germ layers in vivo (Fig. 1G).

Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant disorder that is caused by the abnormal amplification of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene. The main feature of SCA3 is progressive ataxia. Currently, no effective treatment exists for this condition. For this study, we obtained dermal fibroblasts from a patient. The fibroblasts were successfully transformed into induced pluripotent stem cells (iPSCs) by employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our approach offers a resource for further research into SCA3 mechanism in an attempt to facilitate the development and screening of pharmaceutical and gene therapy.

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research.

Skin fibroblasts were obtained from a 42-year-old Alzheimer's disease (AD) patient carrying mutations in the PSEN1 gene. An iPSC line was successfully established using the Sendai-virus (SeV) delivery system. The patient-specific iPSCs were free of genomically integrated reprogramming genes, had the specific mutation, expressed the expected pluripotency markers, and had the potential to differentiate into cells of all three germ layers. Our model might offer a robust platform for further study of the pathomechanism of this disease as well as drug testing and gene therapy studies.

Ras-related protein 39B (RAB39B) mutation has been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of familial PD. Recently, a novel RAB39B mutation was identified in an X-linked juvenile parkinsonism family and the dermal fibroblasts of the patient were obtained and successfully induced to induced pluripotent stem cells (iPSCs) by the human OSKM transcription factors using the Sendai-virus delivery system. Our model may offer a good platform for further research of the pathomechanism, drug testing, and gene therapy of this disease.

Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early-onset (

MEOX2 mutation has been reported as a potential cause of familial Alzheimer's disease. Recently, a novel MEOX2 mutation was identified in a family with Alzheimer's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Our model may offer a good platform for further research on the pathomechanism, drug testing, and gene therapy of this disease.