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; 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: 19-12-24; Version: 6
//
RX   PubMed=35279592; DOI=10.1016/j.scr.2022.102742;
RA   Lorenz, Carmen
RA   Zink, Annika
RA   Henke, Marie-Therese
RA   Staege, Selma
RA   Mlody, Barbara
RA   Bunning, Miriam
RA   Wanker, Erich E.
RA   Diecke, Sebastian
RA   Schuelke, Markus
RA   Prigione, Alessandro
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).
//