ID   NCHi011-A
AC   CVCL_C9HY
SY   NCH092
DR   BioSamples; SAMEA114071487
DR   hPSCreg; NCHi011-A
DR   Wikidata; Q123033148
RX   PubMed=37774637;
CC   From: Nationwide Children's Hospital; Columbus; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Ser131Valfs*13 (c.390dupG); ClinVar=VCV000289187; Zygosity=Heterozygous (PubMed=37774637).
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   Female
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37774637; DOI=10.1016/j.scr.2023.103213;
RA   Stanberry I., Cunningham D., Ye S.-Q., Alonzo M., Zhao M.-T., Garg V.,
RA   Lilly B.;
RT   "Characterization of an induced pluripotent stem cell line NCHi011-A
RT   from a 23-year-old female with Alagille syndrome harboring a
RT   heterozygous JAG1 pathogenic variant.";
RL   Stem Cell Res. 72:103213-103213(2023).
//