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Cellosaurus USPi007-A (CVCL_C9HR)

[Text version]
Cell line name USPi007-A
Synonyms DFNA58-ipsc-dup2-cl5
Accession CVCL_C9HR
Resource Identification Initiative To cite this cell line use: USPi007-A (RRID:CVCL_C9HR)
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; 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 37Y
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)

Cross-references
Cell line databases/resources hPSCreg; USPi007-A
Biological sample resources BioSamples; SAMEA112657232
Encyclopedic resources Wikidata; Q123033763
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2