ID   SDQLCHi037-A
AC   CVCL_A4XH
DR   hPSCreg; SDQLCHi037-A
DR   Wikidata; Q107116891
RX   PubMed=33465531;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Gln539Ter (c.1615C>T); ClinVar=VCV000488807; Zygosity=Heterozygous (PubMed=33465531).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35139; Alagille syndrome
DI   ORDO; Orphanet_52; Alagille syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33465531; DOI=10.1016/j.scr.2021.102162;
RA   Wang B., Yang L., Li Y., Gao M., Zhang H.-Y., Yang X.-M., Guan J.-Y.,
RA   Liu Y., Gai Z.-T.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (SDQLCHi037-A) from a patient with Alagille syndrome carrying
RT   heterozygous mutation in JAG1 gene.";
RL   Stem Cell Res. 51:102162-102162(2021).
//