ID   Mt1-4
AC   CVCL_A4RT
DR   SKIP; SKIP003000
DR   Wikidata; Q105510182
RX   PubMed=22396012;
CC   Sequence variation: Mutation; HGNC; HGNC:7490; MT-TL1; Simple; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=Increased level of mutation compared to the parent skin fibroblast (PubMed=22396012).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C131859; Mitochondrial diabetes
DI   ORDO; Orphanet_225; Maternally-inherited diabetes and deafness
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A4RI ! Mt1-fibro
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=22396012; DOI=10.1007/s00125-012-2508-2;
RA   Fujikura J., Nakao K., Sone M., Noguchi M., Mori E., Naito M.,
RA   Taura D., Harada-Shiba M., Kishimoto I., Watanabe A., Asaka I.,
RA   Hosoda K., Nakao K.;
RT   "Induced pluripotent stem cells generated from diabetic patients with
RT   mitochondrial DNA A3243G mutation.";
RL   Diabetologia 55:1689-1698(2012).
//