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Cellosaurus LHON1-hiPSC1 (CVCL_C880)

[Text version]
Cell line name LHON1-hiPSC1
Synonyms LHON.1.H.iPSC.1; LHON-hiPSC1
Accession CVCL_C880
Resource Identification Initiative To cite this cell line use: LHON1-hiPSC1 (RRID:CVCL_C880)
Comments From: Royan Institute; Theran; Iran.
Population: Iranian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7462; MT-ND6; Simple; p.Met64Val (m.14484T>C); ClinVar=VCV000009688; Zygosity=Unspecified (PubMed=22145677).
Disease Leber hereditary optic atrophy (NCIt: C84808)
Leber hereditary optic neuropathy (ORDO: Orphanet_104)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C881 ! LHON1-hiPSC2
CVCL_C882 ! LHON1-hiPSC4
CVCL_C883 ! LHON1-hiPSC5
Sex of cell Male
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=22145677; DOI=10.1089/scd.2011.0599
Zahabi A., Shahbazi E., Ahmadieh H., Hassani S.-N., Totonchi M., Taei A., Masoudi N.S., Ebrahimi M., Aghdami N., Seifinejad A., Mehrnejad F., Daftarian N., Salekdeh G.H., Baharvand H.
A new efficient protocol for directed differentiation of retinal pigmented epithelial cells from normal and retinal disease induced pluripotent stem cells.
Stem Cells Dev. 21:2262-2272(2012)

Cross-references
Cell line collections (Providers) RSCB; RSCB0127
Encyclopedic resources Wikidata; Q54902472
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number12