ID   iMERRF-C7
AC   CVCL_A4GB
DR   Wikidata; Q105509665
RX   PubMed=27934592;
CC   From: Obstetrics and Gynecology Hospital, Nanjing Medical University; Nanjing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7489; MT-TK; Simple; m.8344A>G; ClinVar=VCV000009579; Zygosity=Heteroplasmic (PubMed=27934592).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   11Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=27934592; DOI=10.1016/j.scr.2016.11.008;
RA   Liang D., Hu H.-R., Xu T.-H., Wang Y., Hu P., Xu Z.-F.;
RT   "Generation of MERRF patient-derived induced pluripotent stem cell
RT   line iMERRF-C7.";
RL   Stem Cell Res. 17:616-618(2016).
//