ID   TVGHi006-A
AC   CVCL_VN38
SY   TVGH-iPSC-MRF-Mhigh; TVGH-iPSC-MRF-Mh
DR   hPSCreg; TVGHi006-A
DR   Wikidata; Q98133701
RX   PubMed=29960149;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:7489; MT-TK; Simple; m.8344A>G; ClinVar=VCV000009579; Zygosity=Heteroplasmic; Note=76% (PubMed=29960149).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84889; Myoclonic epilepsy associated with ragged-red fibers
DI   ORDO; Orphanet_551; MERRF
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VN37 ! TVGHi005-A
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=29960149; DOI=10.1016/j.scr.2018.05.011;
RA   Chou, Shih-Jie
RA   Ko, Yu-Ling
RA   Yang, Yu-Hsuan
RA   Yarmishyn, Aliaksandr A.
RA   Wu, Yu-Ting
RA   Chen, Chien-Tsun
RA   Lee, Hsin-Chen
RA   Wei, Yau-Huei
RA   Chiou, Shih-Hwa
RT   "Generation of two isogenic human induced pluripotent stem cell lines
RT   from a 15 year-old female patient with MERRF syndrome and A8344G
RT   mutation of mitochondrial DNA.";
RL   Stem Cell Res. 30:201-205(2018).
//