ID   MiPSC5
AC   CVCL_A4RE
DR   SKIP; SKIP002968
DR   Wikidata; Q105510144
RX   PubMed=29318513;
CC   Sequence variation: Mutation; HGNC; HGNC:7490; MT-TL1; Simple; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=In >80% of cells (PubMed=29318513).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84885; MELAS syndrome
DI   ORDO; Orphanet_550; MELAS
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=29318513; DOI=10.1007/s13238-017-0499-y; PMCID=PMC5829275;
RA   Yang Y., Wu H., Kang X.-J., Liang Y.-H., Lan T., Li T.-J., Tan T.,
RA   Peng J.-Y., Zhang Q.-J., An G., Liu Y.-L., Yu Q., Ma Z.-L., Lian Y.,
RA   Soh B.S., Chen Q.-F., Liu P., Chen Y.-Y., Sun X.-F., Li R.,
RA   Zhen X.-M., Liu P., Yu Y., Li X.-P., Fan Y.;
RT   "Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by
RT   mitoTALENs.";
RL   Protein Cell 9:283-297(2018).
//