ID   LHON1-hiPSC5
AC   CVCL_C883
SY   LHON.1.H.iPSC.5; LHON-hiPSC5; RIi014-A
DR   hPSCreg; RIi014-A
DR   RSCB; RSCB0130
DR   SKIP; SKIP002409
DR   SKIP; SKIP005847
DR   Wikidata; Q54902475
RX   PubMed=22145677;
CC   From: Royan Institute; Theran; Iran.
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 7462; MT-ND6; Simple; p.Met64Val (m.14484T>C); ClinVar=VCV000009688; Zygosity=Unspecified (PubMed=22145677).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_C880 ! LHON1-hiPSC1
OI   CVCL_C881 ! LHON1-hiPSC2
OI   CVCL_C882 ! LHON1-hiPSC4
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 17-03-22; Version: 13
//
RX   PubMed=22145677; DOI=10.1089/scd.2011.0599;
RA   Zahabi A., Shahbazi E., Ahmadieh H., Hassani S.-N., Totonchi M.,
RA   Taei A., Masoudi N., Ebrahimi M., Aghdami N., Seifinejad A.,
RA   Mehrnejad F., Daftarian N., Salekdeh G.H., Baharvand H.;
RT   "A new efficient protocol for directed differentiation of retinal
RT   pigmented epithelial cells from normal and retinal disease induced
RT   pluripotent stem cells.";
RL   Stem Cells Dev. 21:2262-2272(2012).
//