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Cellosaurus IBMS-iPSC-074-01 (CVCL_C0HC)

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Cell line name IBMS-iPSC-074-01
Synonyms IBMSi026-A
Accession CVCL_C0HC
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-074-01 (RRID:CVCL_C0HC)
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; HGNC:8140; OPA1; Simple; p.Cys490Arg (c.1468T>C); Zygosity=Heterozygous (PubMed=36075118).
Disease Optic atrophy 1 (NCIt: C169000)
Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=36075118; DOI=10.1016/j.scr.2022.102903
Yen-Hui Chan, Chang-Han Ho, Cheng-Yu Tsai, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu;
Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.
Stem Cell Res. 64:102903-102903(2022)

Cross-references
Cell line databases/resources hPSCreg; IBMSi026-A
Encyclopedic resources Wikidata; Q112929832
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6