Cellosaurus cell line USPi006-A (CVCL

Cellosaurus USPi006-A (CVCL_C9HQ)

Cross-references
Cell line name	USPi006-A
Synonyms	DFNA58-ipsc-dup1-cl2
Accession	CVCL_C9HQ
Resource Identification Initiative	To cite this cell line use: USPi006-A (RRID:CVCL_C9HQ)
Comments	From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil. Population: Caucasian. Omics: Array-based CGH. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:34029; DFNA58; Unexplicit; 2p14-13.3(chr2:g.68475209_68676657)x3; ClinVar=VCV001184810; Zygosity=Heterozygous (PubMed=37595341).
Disease	Deafness, autosomal dominant 58 (NCIt: C201585) Autosomal dominant non-syndromic sensorineural deafness type DFNA (ORDO: Orphanet_90635)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	53Y
Category	Induced pluripotent stem cell
Publications	PubMed=37595341; DOI=10.1016/j.scr.2023.103181 Kobayashi G.S., Vieira-Silva G.A., Varella-Branco E., Moreira D.P., Kitajima J.P.F.W., Hemza C.R.M.L., Mingroni-Netto R.C., Lojudice F.H., Oiticica J., Bento R.F., Batissoco A.C., Lezirovitz-Mandelbaum K. Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: two hearing-impaired duplication carriers (USPi006-A and USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A). Stem Cell Res. 71:103181-103181(2023)
Cell line databases/resources	hPSCreg; USPi006-A
Biological sample resources	BioSamples; SAMEA112657231
Encyclopedic resources	Wikidata; Q123033762
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3