Cellosaurus cell line NCHi015-A (CVCL

Cross-references
Cell line name	NCHi015-A
Synonyms	NCH178
Accession	CVCL_D6LC
Resource Identification Initiative	To cite this cell line use: NCHi015-A (RRID:CVCL_D6LC)
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:7133; KMT2D; Simple; p.Glu956Asp (c.2868G>C); ClinVar=VCV000390095; Zygosity=Heterozygous (PubMed=38833814). Mutation; HGNC; HGNC:7881; NOTCH1; Simple; c.1099+1G>T; ClinVar=VCV002121772; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38833814).
Disease	Persistent truncus arteriosus (NCIt: C98880) Truncus arteriosus (ORDO: Orphanet_3384)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=38833814; DOI=10.1016/j.scr.2024.103457; PMCID=PMC11193886 Wang J., Bering J., Alonzo M., Ye S.-Q., Texter K.M., Garg V., Zhao M.-T. Generation of iPSC line NCHi015-A from a patient with truncus arteriosus carrying heterozygous variants in KMT2D and NOTCH1. Stem Cell Res. 78:103457-103457(2024)
Cell line databases/resources	hPSCreg; NCHi015-A
Biological sample resources	BioSamples; SAMEA115398116
Encyclopedic resources	Wikidata; Q127382939
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3