Cellosaurus cell line NCHi012-A (CVCL

Cross-references
Cell line name	NCHi012-A
Synonyms	NCH089
Accession	CVCL_C9HX
Resource Identification Initiative	To cite this cell line use: NCHi012-A (RRID:CVCL_C9HX)
Comments	From: Nationwide Children's Hospital; Columbus; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Cys496Phefs*9 (c.1485_1486delCT); ClinVar=VCV000234321; Zygosity=Heterozygous (PubMed=37549562).
Disease	Alagille syndrome (NCIt: C35139) Alagille syndrome (ORDO: Orphanet_52)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=37549562; DOI=10.1016/j.scr.2023.103177; PMCID=PMC10528323 Cunningham D., Stanberry I., Ye S.-Q., Alonzo M., Zhao M.-T., Garg V., Lilly B. Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene. Stem Cell Res. 71:103177-103177(2023)
Cell line databases/resources	hPSCreg; NCHi012-A
Biological sample resources	BioSamples; SAMEA114066532
Encyclopedic resources	Wikidata; Q123033149
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3