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Cellosaurus IBMS-iPSC-036-01 (CVCL_UD67)

[Text version]
Cell line name IBMS-iPSC-036-01
Synonyms IBMSi010-A
Accession CVCL_UD67
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-036-01 (RRID:CVCL_UD67)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese; Taiwan.
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=Heterozygous (PubMed=30316039).
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 Female
Age at sampling 34Y
Category Induced pluripotent stem cell

PubMed=30316039; DOI=10.1016/j.scr.2018.10.002
Chan Y.-H., Cheng Y.-F., Chen Y.-T., Huang C.-Y., Lin C.-H., Hu C.-J., Lu Y.-C., Wu C.-C., Hsu C.-J.
Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation.
Stem Cell Res. 33:51-55(2018)

Cell line databases/resources hPSCreg; IBMSi010-A
Encyclopedic resources Wikidata; Q94313042
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number7