ID   NCHi015-A
AC   CVCL_D6LC
SY   NCH178
DR   BioSamples; SAMEA115398116
DR   hPSCreg; NCHi015-A
DR   Wikidata; Q127382939
RX   PubMed=38833814;
CC   From: Nationwide Children's Hospital; Columbus; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7133; KMT2D; Simple; p.Glu956Asp (c.2868G>C); ClinVar=VCV000390095; Zygosity=Heterozygous (PubMed=38833814).
CC   Sequence variation: Mutation; HGNC; HGNC:7881; NOTCH1; Simple; c.1099+1G>T; ClinVar=VCV002121772; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38833814).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98880; Persistent truncus arteriosus
DI   ORDO; Orphanet_3384; Truncus arteriosus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=38833814; DOI=10.1016/j.scr.2024.103457; PMCID=PMC11193886;
RA   Wang J., Bering J., Alonzo M., Ye S.-Q., Texter K.M., Garg V.,
RA   Zhao M.-T.;
RT   "Generation of iPSC line NCHi015-A from a patient with truncus
RT   arteriosus carrying heterozygous variants in KMT2D and NOTCH1.";
RL   Stem Cell Res. 78:103457-103457(2024).
//