Cellosaurus cell line TFA2 (CVCL

Cellosaurus TFA2 (CVCL_B7EQ)

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 Carmen Lorenz, Pierre Lesimple, Raul Bukowiecki, Annika Zink, Gizem Inak, Barbara Mlody, Manvendra Singh, Marcus Semtner, Nancy Mah, Karine Aure, Megan Leong ...Show all 29 authors... , Oleksandr Zabiegalov, Ekaterini-Maria Lyras, Vanessa Pfiffer, Beatrix Fauler, Jenny Eichhorst, Burkhard Wiesner, Norbert Huebner, Josef Priller, Thorsten Mielke, David Meierhofer, Zsuszanna Izsvak, Jochen C. Meier, Frederic Bouillaud, James Adjaye, Markus Schuelke, Erich E. Wanker, Anne Lombes, Alessandro Prigione; Show fewer authors 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