ID   TVGHi008-A
AC   CVCL_C0F4
SY   TVGH-iPSC-CF-S308X
DR   hPSCreg; TVGHi008-A
DR   Wikidata; Q112930487
RX   PubMed=35091309;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Ser308Ter (c.923C>A); Zygosity=Homozygous (PubMed=35091309).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35091309; DOI=10.1016/j.scr.2022.102683;
RA   Khor W., Hwang T.-C., Wang C.-C., Yarmishyn A.A., Yeh J.-T.,
RA   Chiou S.-H., Chou S.-J.;
RT   "Generation of human induced pluripotent stem cells from cystic
RT   fibrosis patient carrying nonsense mutation (p.S308X) in CFTR gene.";
RL   Stem Cell Res. 60:102683-102683(2022).
//