ID   FDHSi003-A
AC   CVCL_D6I1
DR   BioSamples; SAMEA114663965
DR   hPSCreg; FDHSi003-A
DR   Wikidata; Q127380852
RX   PubMed=38377650;
CC   From: Huashan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:21698; RNF216; Simple; p.Glu650Ter (c.1948G>T); Zygosity=Homozygous (PubMed=38377650).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C205640; Gordon Holmes syndrome
DI   ORDO; Orphanet_1173; Cerebellar ataxia-hypogonadism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38377650; DOI=10.1016/j.scr.2024.103347;
RA   Xu, Wen-Qing
RA   Chen, Ke-Liang
RA   Guo, Min
RA   Dong, Qiang
RA   Cui, Mei
RT   "Establishment of FDHSi003-A, a human induced pluripotent stem cell
RT   (hiPSC) line with a mutation of RNF216 c.1948G > T.";
RL   Stem Cell Res. 76:103347-103347(2024).
//