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Cellosaurus TDA3.1 (CVCL_B7ER)

[Text version]
Cell line name TDA3.1
Synonyms HHUi001-A
Accession CVCL_B7ER
Resource Identification Initiative To cite this cell line use: TDA3.1 (RRID:CVCL_B7ER)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Homoplasmic (PubMed=28132834).
Disease Mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1 (NCIt: C186788)
Isolated ATP synthase deficiency (ORDO: Orphanet_254913)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=28132834; DOI=10.1016/j.stem.2016.12.013
Lorenz C., Lesimple P., Bukowiecki R., Zink A., Inak G., Mlody B., Singh M., Semtner M., Mah N., Aure K., Leong M., Zabiegalov O., Lyras E.-M., Pfiffer V., Fauler B., Eichhorst J., Wiesner B., Huebner N., Priller J., Mielke T., Meierhofer D., Izsvak Z., Meier J.C., Bouillaud F., Adjaye J., Schuelke M., Wanker E.E., Lombes A., Prigione A.
Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders.
Cell Stem Cell 20:659-674.e9(2017)

Cross-references
Cell line databases/resources hPSCreg; HHUi002-A
Encyclopedic resources Wikidata; Q112930461
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4