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Cellosaurus UMi040-A (CVCL_B7CI)

[Text version]
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; 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
Tang P.-C., Roche M.V., Um S.Y., Gosstola N.C., Kim M.Y., Choi B.Y., Dykxhoorn D.M., Liu X.-Z.
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)

Cross-references
Cell line databases/resources hPSCreg; UMi040-A
Biological sample resources BioSamples; SAMEA13260017
Encyclopedic resources Wikidata; Q112930519
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4