ID   FDHSi005-A
AC   CVCL_E4G7
SY   FDH-iPS-IBM-GNE
DR   BioSamples; SAMEA115920917
DR   hPSCreg; FDHSi005-A
RX   PubMed=39303320;
CC   From: Huashan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:23657; GNE; Simple; p.Arg129Ter (c.385C>T) (p.Arg160Ter, c.478C>T); ClinVar=VCV000370849; Zygosity=Heterozygous (PubMed=39303320).
CC   Sequence variation: Mutation; HGNC; HGNC:23657; GNE; Simple; c.862+870C>T; Zygosity=Heterozygous (PubMed=39303320).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176900; Nonaka myopathy
DI   ORDO; Orphanet_602; GNE myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39303320; DOI=10.1016/j.scr.2024.103562;
RA   Jiao K.-X., Zhang J.-L., Wang N.-N., Gu X.-Y., Chang X.-C., Xia X.-Y.,
RA   Zhu B.-C., Gao M.-S., Cheng N.-C., Zhao C.-B., Xi J.-Y., Zhu W.-H.;
RT   "Human induced pluripotent stem cell line (FDHSi005-A) derived from a
RT   patient with a deep intronic variant in the GNE gene.";
RL   Stem Cell Res. 81:103562-103562(2024).
//