Cellosaurus cell line UMi030-A (CVCL_A5GK)

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Cell line name	UMi030-A
Synonyms	UMNSDF253-100
Accession	CVCL_A5GK
Resource Identification Initiative	To cite this cell line use: UMi030-A (RRID:CVCL_A5GK)
Comments	From: Miller School of Medicine, University of Miami; Miami; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (PubMed=34883447).
Disease	Deafness, autosomal recessive 1A (NCIt: C129022) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=34883447; DOI=10.1016/j.scr.2021.102599 Colbert B.M., Gosstola N.C., Dykxhoorn D.M., Liu Z.-X. Generation of hiPSC line UMi030-A from an individual with the hearing loss-related GJB2 mutation c.109G > A. Stem Cell Res. 58:102599-102599(2022)
Cell line databases/resources	hPSCreg; UMi030-A
Encyclopedic resources	Wikidata; Q107117327
Entry history
Entry creation	20-May-2021
Last entry update	29-Jun-2023
Version number	5