ID   BIHi269-B
DR   BioSamples; SAMEA11951596
DR   hPSCreg; BIHi269-B
DR   Wikidata; Q123030796
RX   PubMed=36669241;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu217Arg (m.9176T>G); ClinVar=VCV000009650; Zygosity=Heteroplasmic (PubMed=36669241).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0R0 ! BIHi269-A
OI   CVCL_D0R2 ! BIHi269-C
OI   CVCL_D0R3 ! BIHi269-D
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
RX   PubMed=36669241; DOI=10.1016/j.scr.2023.103030;
RA   Henke M.-T., Zink A., Diecke S., Prigione A., Schuelke M.;
RT   "Generation of two mother-child pairs of iPSCs from maternally
RT   inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G
RT   MT-ATP6 mutations.";
RL   Stem Cell Res. 67:103030-103030(2023).