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Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient
- Source :
- Stem cell research, 55:102443. Elsevier, Stem Cell Research, Vol 55, Iss, Pp 102443-(2021)
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study GPS pathophysiology and the basic functions of NBEAL2 protein in different cell types.
- Subjects :
- Blood Platelets
0301 basic medicine
Cell type
Erythroblasts
QH301-705.5
Induced Pluripotent Stem Cells
Germ layer
Biology
Gray Platelet Syndrome
Compound heterozygosity
Gray platelet syndrome
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Platelet
Biology (General)
Induced pluripotent stem cell
Myelofibrosis
Cell Differentiation
Blood Proteins
Cell Biology
General Medicine
medicine.disease
030104 developmental biology
Mutation
Cancer research
Reprogramming
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 18735061
- Volume :
- 55
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....33829d6014daed401b023d3794aa7ff7