Cellosaurus cell line TFA2 (CVCL

Cross-references
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; 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)
Encyclopedic resources	Wikidata; Q112930465
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5