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Cellosaurus UMGi054-A.3 (CVCL_A1YS)

[Text version]
Cell line name UMGi054-A.3
Synonyms TAZ10-3
Accession CVCL_A1YS
Resource Identification Initiative To cite this cell line use: UMGi054-A.3 (RRID:CVCL_A1YS)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Caution: The University Medical Center Goettingen is not following the guidelines of hPSCreg regarding the naming of their cell lines: they are assigning a single name (here UMGi054-A) for a series of distinct clones.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Gly197Val (c.590G>T); Zygosity=Hemizygous (PubMed=23792436).
Disease Barth syndrome (NCIt: C84585)
Barth syndrome (ORDO: Orphanet_111)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1YT ! UMGi054-A.4
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Web pages https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=77
Publications

PubMed=23792436; DOI=10.1016/j.scr.2013.05.005
Dudek J., Cheng I.-F., Balleininger M., Vaz F.M., Streckfuss-Bomeke K., Hubscher D., Vukotic M., Wanders R.J.A., Rehling P., Guan K.-M.
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.
Stem Cell Res. 11:806-819(2013)

Cross-references
Cell line databases/resources hPSCreg; UMGi054-A
Encyclopedic resources Wikidata; Q105511537
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6