ID   HHUi003-B
AC   CVCL_C1T9
SY   A4_C1
DR   BioSamples; SAMEA110696885
DR   hPSCreg; HHUi003-B
DR   Wikidata; Q114311612
RX   PubMed=36137325;
CC   From: Universitatsklinikum Dusseldorf, Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Homoplasmic (PubMed=36137325).
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)
OI   CVCL_C1T8 ! HHUi003-A
OI   CVCL_C1TA ! HHUi003-C
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=36137325; DOI=10.1016/j.scr.2022.102920;
RA   Steiner T., Zink A., Henke M.-T., Cecchetto G., Buenning M., Rossi A.,
RA   Schuelke M., Prigione A.;
RT   "RNA-based generation of iPSCs from a boy carrying the mutation m.9185
RT   T>C in the mitochondrial gene MT-ATP6 and from his healthy mother.";
RL   Stem Cell Res. 64:102920-102920(2022).
//