Cellosaurus cell line KMUGMCi010-A (CVCL

Cross-references
Cell line name	KMUGMCi010-A
Synonyms	KN687B
Accession	CVCL_D6PR
Resource Identification Initiative	To cite this cell line use: KMUGMCi010-A (RRID:CVCL_D6PR)
Comments	From: Kanazawa Medical University; Uchinada; Japan. Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11957; MED12; Simple; p.Arg296Gln (c.887G>A); ClinVar=VCV000522111; Zygosity=Hemizygous (PubMed=38492468).
Disease	X-linked Ohdo syndrome (NCIt: C206528) Blepharophimosis-intellectual disability syndrome, MKB type (ORDO: Orphanet_293707)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=38492468; DOI=10.1016/j.scr.2024.103388 Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida; Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene. Stem Cell Res. 77:103388-103388(2024)
Cell line databases/resources	hPSCreg; KMUGMCi010-A
Biological sample resources	BioSamples; SAMEA115094052
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2