ID   MDCi010-A
AC   CVCL_C0HG
SY   8993-D7; iPSC_D7
DR   BioSamples; SAMEA12276594
DR   hPSCreg; MDCi010-A
DR   Wikidata; Q112930104
RX   PubMed=35279592;
CC   From: Max Delbruck Center Berlin Buch; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Homoplasmic (PubMed=35279592).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=35279592; DOI=10.1016/j.scr.2022.102742;
RA   Lorenz C., Zink A., Henke M.-T., Staege S., Mlody B., Bunning M.,
RA   Wanker E.E., Diecke S., Schuelke M., Prigione A.;
RT   "Generation of four iPSC lines from four patients with Leigh syndrome
RT   carrying homoplasmic mutations m.8993T > G or m.8993T > C in the
RT   mitochondrial gene MT-ATP6.";
RL   Stem Cell Res. 61:102742-102742(2022).
//