Cellosaurus logo
expasy logo

Cellosaurus TFA2 (CVCL_B7EQ)

[Text version]
Cell line name TFA2
Accession CVCL_B7EQ
Resource Identification Initiative To cite this cell line use: TFA2 (RRID:CVCL_B7EQ)
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_B7EP ! TDA2.3
Sex of cell Female
Age at sampling 47Y
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
Encyclopedic resources Wikidata; Q112930465
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4