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
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 mal...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120301483 |
| Summary: | 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. |
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| ISSN: | 1873-5061 |