ID   LHON1-hiPSC1
AC   CVCL_C880
SY   LHON.1.H.iPSC.1; LHON-hiPSC1
DR   RSCB; RSCB0127
DR   Wikidata; Q54902472
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C881 ! LHON1-hiPSC2
OI   CVCL_C882 ! LHON1-hiPSC4
OI   CVCL_C883 ! LHON1-hiPSC5
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 12
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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.S., 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).
//