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Cellosaurus TDA2.3 (CVCL_B7EP)

[Text version]
Cell line name TDA2.3
Synonyms HHUi001-A
Accession CVCL_B7EP
Resource Identification Initiative To cite this cell line use: TDA2.3 (RRID:CVCL_B7EP)
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)
Originate from same individual CVCL_B7EQ ! TFA2
Sex of cell Female
Age at sampling 47Y
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; HHUi001-A
Encyclopedic resources Wikidata; Q112930460
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4