Cellosaurus cell line KEIUi008-A (CVCL

Cross-references
Cell line name	KEIUi008-A
Synonyms	A1555G
Accession	CVCL_E4E1
Resource Identification Initiative	To cite this cell line use: KEIUi008-A (RRID:CVCL_E4E1)
Comments	From: Keio University; Tokyo; Japan. Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7470; MT-RNR1; Simple; m.1555A>G; ClinVar=VCV000009628; Zygosity=Homoplasmic (PubMed=38815527).
Disease	Mitochondrially inherited nonsyndromic sensorineural deafness (NCIt: C148321) Mitochondrial non-syndromic sensorineural deafness (ORDO: Orphanet_90641)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	54Y
Category	Induced pluripotent stem cell
Publications	PubMed=38815527; DOI=10.1016/j.scr.2024.103452 Yusuke Masano, Chika Saegusa, Mitsuru Ishikawa, Tatsuo Matsunaga, Hideyuki Okano, Masato Fujioka; Generation of an induced pluripotent stem cell line (KEIUi008-A) from a hearing loss patient with an A1555G mutation in mitochondrial DNA. Stem Cell Res. 78:103452-103452(2024)
Cell line databases/resources	hPSCreg; KEIUi008-A
Biological sample resources	BioSamples; SAMEA115405392
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1