ID   IBMS-iPSC-031-05
AC   CVCL_QY32
SY   IBMSi005-A
DR   BCRC; SC81058
DR   BCRC; SC81059
DR   hPSCreg; IBMSi005-A
DR   SKIP; SKIP003051
DR   SKIP; SKIP005654
DR   SKIP; SKIP005655
DR   Wikidata; Q54897200
RX   PubMed=29288969;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 7489; MT-TK; Simple; m.8344A>G; ClinVar=VCV000009579; Zygosity=Unspecified (PubMed=29288969).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29288969
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 9
ST   D16S539: 11,12
ST   D18S51: 14,16
ST   D19S433: 14,15
ST   D21S11: 30,31.2
ST   D2S1338: 17,19
ST   D3S1358: 15
ST   D5S818: 11,13
ST   D7S820: 9,10
ST   D8S1179: 10,15
ST   FGA: 21,22
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C84889; Myoclonic epilepsy associated with ragged-red fibers
DI   ORDO; Orphanet_551; MERRF
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29288969; DOI=10.1016/j.scr.2017.12.013;
RA   Wu Y.-T., Hsu Y.-H., Huang C.-Y., Ho M.-C., Cheng Y.-C., Wen C.-H.,
RA   Ko H.-W., Lu H.-E., Chen Y.-C., Tsai C.-L., Hsu Y.-C., Wei Y.-H.,
RA   Hsieh P.C.-H.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   40-year-old patient with the A8344G mutation of mitochondrial DNA and
RT   MERRF (myoclonic epilepsy with ragged red fibers) syndrome.";
RL   Stem Cell Res. 27:10-14(2018).
//