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Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
- Source :
- Stem Cell Research, Vol 28, Iss, Pp 153-156 (2018)
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.
- Subjects :
- Adult
0301 basic medicine
Cellular differentiation
Induced Pluripotent Stem Cells
Cell Culture Techniques
Retinoic acid
030105 genetics & heredity
Biology
medicine.disease_cause
Mice
03 medical and health sciences
chemistry.chemical_compound
medicine
Animals
Humans
Coding region
Induced pluripotent stem cell
lcsh:QH301-705.5
Gene
Embryoid Bodies
Genetics
Mutation
Base Sequence
Teratoma
Genetic disorder
Cell Differentiation
Cell Biology
General Medicine
Smith–Magenis syndrome
medicine.disease
lcsh:Biology (General)
chemistry
Trans-Activators
Female
Smith-Magenis Syndrome
Transcription Factors
Developmental Biology
Subjects
Details
- ISSN :
- 18735061
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....2a085952af3911fae3616d629973c25d
- Full Text :
- https://doi.org/10.1016/j.scr.2018.02.016