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Cellosaurus CGMHi001-A (CVCL_WG66)

[Text version]

Cell line name CGMHi001-A
Synonyms CGMH.SLC26A4919-2
Accession CVCL_WG66
Resource Identification Initiative To cite this cell line use: CGMHi001-A (RRID:CVCL_WG66)
Comments From: Chang Gung Memorial Hospital, Lin-Kou Medical Centre, Chang Gung University; Tao-Yuan; Taiwan.
Sequence variations Homozygous for SLC26A4 c.919-2A>G (IVS7AS,A-G,-2); splice acceptor mutation (PubMed=31415960).
Disease Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (NCIt: C158787)
Pendred syndrome (NCIt: C121745)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=31415960; DOI=10.1016/j.scr.2019.101524
Cheng Y.-F., Chan Y.-H., Hu C.-J., Lu Y.-C., Saeki T., Hosoya M., Saegusa C., Fujioka M., Okano H., Weng S.-M., Hsu C.-J., Chang K.-H., Wu C.-C.
Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.
Stem Cell Res. 40:101524-101524(2019)

Cross-references
Cell line databases/resources hPSCreg; CGMHi001-A
Entry history
Entry creation24-May-2019
Last entry updated06-Sep-2019
Version number3