Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13.
Stem Cell Res
; 46: 101847, 2020 07.
Article
in En
| MEDLINE
| ID: mdl-32474395
ABSTRACT
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2-q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old male PWS patient exhibiting deletion of the paternal chromosome 15q11.2-q13 region. The deletion was confirmed via methylation-specific multiplex ligation probe amplification assay (MS-MLPA) of genomic DNA. The hiPSC line expressed pluripotency markers and differentiated into three germ layers. The cell line may serve as a valuable model of an imprinting PWS disorder useful in terms of drug discovery and development.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prader-Willi Syndrome
/
Induced Pluripotent Stem Cells
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Stem Cell Res
Year:
2020
Document type:
Article
Affiliation country:
Corea del Sur