ID   SDQLCHi026-A
AC   CVCL_ZC36
DR   hPSCreg; SDQLCHi026-A
DR   Wikidata; Q98129490
RX   PubMed=33882394;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3579; FAH; Simple; p.Pro261Leu (c.782C>T); ClinVar=VCV000021058; Zygosity=Heterozygous (PubMed=33882394).
CC   Sequence variation: Mutation; HGNC; 3579; FAH; Simple; p.Trp234Leu (c.701G>T); Zygosity=Heterozygous (PubMed=33882394).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98641; Tyrosinemia type I
DI   ORDO; Orphanet_882; Tyrosinemia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35D
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33882394; DOI=10.1016/j.scr.2021.102331;
RA   Zhang H.-Y., Liu C., Ma Y.-Y., Lin L., Lv Y.-Q., Gao M., Gai Z.-T.,
RA   Liu Y.;
RT   "Generation of an induced pluripotent stem cell line SDQLCHi026-A from
RT   a hereditary tyrosinemia type I patient carrying compound heterozygote
RT   mutations in FAH gene.";
RL   Stem Cell Res. 53:102331-102331(2021).
//