Cellosaurus cell line NCHi011-A (CVCL

Cross-references
Cell line name	NCHi011-A
Synonyms	NCH092
Accession	CVCL_C9HY
Resource Identification Initiative	To cite this cell line use: NCHi011-A (RRID:CVCL_C9HY)
Comments	From: Nationwide Children's Hospital; Columbus; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Ser131Valfs*13 (c.390dupG); ClinVar=VCV000289187; Zygosity=Heterozygous (PubMed=37774637).
Disease	Alagille syndrome (NCIt: C35139) Alagille syndrome (ORDO: Orphanet_52)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	23Y
Category	Induced pluripotent stem cell
Publications	PubMed=37774637; DOI=10.1016/j.scr.2023.103213; PMCID=PMC10807224 Isaac Stanberry, David Cunningham, Shi-Qiao Ye, Matthew Alonzo, Ming-Tao Zhao, Vidu Garg, Brenda Lilly; Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille syndrome harboring a heterozygous JAG1 pathogenic variant. Stem Cell Res. 72:103213-103213(2023)
Cell line databases/resources	hPSCreg; NCHi011-A
Biological sample resources	BioSamples; SAMEA114071487
Encyclopedic resources	Wikidata; Q123033148
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3