Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T
Summary
Gordon Holmes Syndrome (GDHS) is a hereditary neurodegenerative disease mainly associated with mutations of RNF216. We established a human induced pluripotent stem cell (hiPSC) line, FDHSi003-A, derived from PBMC of a patient baring a mutation of RNF216 c.1948G > T, who shows typical symptoms of GDHS. The generated FDHSi003-A expresses pluripotency markers, displays a normal karyotype, and has the potency to differentiate into all three germ layers. Thus, FDHSi003-A is an ideal model to investigate the mechanism of RNF216 in GDHS. Copyright © 2024. Published by Elsevier B.V.
| Authors | Xu W, Chen K, Guo M, Dong Q, Cui M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103347 |
| PubMed | 38377650 |
| DOI | 10.1016/j.scr.2024.103347 |