ID   UMGi056-A.1
SY   TAZ15-1
DR   hPSCreg; UMGi056-A
DR   Wikidata; Q105511551
RX   PubMed=23792436;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; 11577; TAFAZZIN; Simple; p.Arg57Leu (c.170G>T); Zygosity=Hemizygous (PubMed=23792436).
CC   Caution: The University Medical Center Goettingen is not following the guidelines of hPSCreg regarding the naming of their cell lines: they are assigning a single name (here UMGi056-A) for a series of distinct clones.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84585; Barth syndrome
DI   ORDO; Orphanet_111; Barth syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A1YX ! UMGi056-A.5
OI   CVCL_A1YY ! UMGi056-A.8
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
RX   PubMed=23792436; DOI=10.1016/j.scr.2013.05.005;
RA   Dudek J., Cheng I.-F., Balleininger M., Vaz F.M., Streckfuss-Bomeke K.,
RA   Hubscher D., Vukotic M., Wanders R.J.A., Rehling P., Guan K.-M.;
RT   "Cardiolipin deficiency affects respiratory chain function and
RT   organization in an induced pluripotent stem cell model of Barth
RT   syndrome.";
RL   Stem Cell Res. 11:806-819(2013).