ID   KMUGMCi002-A
AC   CVCL_C1LL
SY   KMUGMCi002NIPBL
DR   BioSamples; SAMEA11294984
DR   hPSCreg; KMUGMCi002-A
DR   Wikidata; Q114311823
RX   PubMed=35834947;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 28862; NIPBL; Simple; p.Lys2121del (c.6362_6364delAAA); ClinVar=VCV000159190; Zygosity=Heterozygous (PubMed=35834947).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75016; Cornelia de Lange syndrome
DI   ORDO; Orphanet_199; Cornelia de Lange syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35834947; DOI=10.1016/j.scr.2022.102860;
RA   Ura H., Togi S., Iwata Y., Ozaki M., Niida Y.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del
RT   mutation in the NIPBL gene leading Cornelia de Lange syndrome
RT   (CdLS).";
RL   Stem Cell Res. 63:102860-102860(2022).
//