ID   NCHi012-A
AC   CVCL_C9HX
SY   NCH089
DR   BioSamples; SAMEA114066532
DR   hPSCreg; NCHi012-A
DR   Wikidata; Q123033149
RX   PubMed=37549562;
CC   From: Nationwide Children's Hospital; Columbus; USA.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Cys496Phefs*9 (c.1485_1486delCT); ClinVar=VCV000234321; Zygosity=Heterozygous (PubMed=37549562).
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   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=37549562; DOI=10.1016/j.scr.2023.103177; PMCID=PMC10528323;
RA   Cunningham D., Stanberry I., Ye S.-Q., Alonzo M., Zhao M.-T., Garg V.,
RA   Lilly B.;
RT   "Generation of iPSC line NCHi012-A from a patient with Alagille
RT   syndrome and heterozygous pathogenic variant in the JAG1 gene.";
RL   Stem Cell Res. 71:103177-103177(2023).
//