ID   FDHSi001-A
AC   CVCL_C1T3
SY   FDH-iPS-OPDM-GIPC1; GD09003
DR   BioSamples; SAMEA14509620
DR   hPSCreg; FDHSi001-A
DR   Wikidata; Q114311388
RX   PubMed=36055118;
CC   From: Huashan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1226; GIPC1; Repeat_expansion; c.-211GGC(163); c.-211GGC[(73_?)]; ClinVar=VCV000972742; Zygosity=Heterozygous (PubMed=36055118).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C190873; Oculopharyngodistal myopathy 2
DI   ORDO; Orphanet_98897; Oculopharyngodistal myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=36055118; DOI=10.1016/j.scr.2022.102897;
RA   Jiao K.-X., Yue D.-Y., Gu X.-Y., Cheng N.-C., Chang X.-C., Zhong H.-H.,
RA   Huan X., Su M., Zhou Y.-F., Luo S.-S., Zhao C.-B., Xi J.-Y., Zhu W.-H.;
RT   "Human-induced pluripotent stem cell line (FDHSi001-A) derived from a
RT   patient with a CGG repeat expansion in the 5'UTR of GIPC1.";
RL   Stem Cell Res. 64:102897-102897(2022).
//