Cellosaurus cell line KMUGMCi002-A (CVCL

Cross-references
Cell line name	KMUGMCi002-A
Synonyms	KMUGMCi002NIPBL
Accession	CVCL_C1LL
Resource Identification Initiative	To cite this cell line use: KMUGMCi002-A (RRID:CVCL_C1LL)
Comments	From: Kanazawa Medical University; Uchinada; Japan. Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:28862; NIPBL; Simple; p.Lys2121del (c.6362_6364delAAA); ClinVar=VCV000159190; Zygosity=Heterozygous (PubMed=35834947).
Disease	Cornelia de Lange syndrome (NCIt: C75016) Cornelia de Lange syndrome (ORDO: Orphanet_199)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=35834947; DOI=10.1016/j.scr.2022.102860 Ura H., Togi S., Iwata Y., Ozaki M., Niida Y. Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS). Stem Cell Res. 63:102860-102860(2022)
Cell line databases/resources	hPSCreg; KMUGMCi002-A
Biological sample resources	BioSamples; SAMEA11294984
Encyclopedic resources	Wikidata; Q114311823
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5