Cellosaurus cell line UMi040-A (CVCL

Cross-references
Cell line name	UMi040-A
Synonyms	SB162-284 cl.1
Accession	CVCL_B7CI
Resource Identification Initiative	To cite this cell line use: UMi040-A (RRID:CVCL_B7CI)
Comments	From: Miller School of Medicine, University of Miami; Miami; USA. Population: Korean. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:28472; TMEM43; Simple; p.Arg372Ter (c.1114C>T); ClinVar=VCV000403555; Zygosity=Heterozygous (PubMed=35364395).
Disease	Auditory neuropathy spectrum disorder (NCIt: C116364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	43Y
Category	Induced pluripotent stem cell
Publications	PubMed=35364395; DOI=10.1016/j.scr.2022.102758; PMCID=PMC9089836 Pei-Ciao Tang, Marie V. Roche, Se Young Um, Nicholas C. Gosstola, Min Young Kim, Byung Yoon Choi, Derek M. Dykxhoorn, Xue-Zhong Liu; Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43. Stem Cell Res. 61:102758-102758(2022)
Cell line databases/resources	hPSCreg; UMi040-A
Biological sample resources	BioSamples; SAMEA13260017
Encyclopedic resources	Wikidata; Q112930519
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5