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Cellosaurus FINCBi006-A (CVCL_D6I5)

[Text version]
Cell line name FINCBi006-A
Synonyms mt1108 clone #121; mt1108 #121; #121
Accession CVCL_D6I5
Resource Identification Initiative To cite this cell line use: FINCBi006-A (RRID:CVCL_D6I5)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Population: Caucasian.
Donor information: Established from monozygotic twin of FINCBi005-A (Cellosaurus=CVCL_D6I4). At sampling the donor for FINCBi006-A is unaffected with LHON while its sibling is affected (PubMed=38552355).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7460; MT-ND4L; Simple; p.Ala71Thr (m.10680G>A); ClinVar=VCV000693310; Zygosity=Heteroplasmic; Note=The donor fibroblasts were heteroplasmic in 74% of the cells, the iPSC in 4% of the cells (PubMed=38552355).
  • Mutation; HGNC; 7462; MT-ND6; Simple; p.Met64Val (m.14484T>C); ClinVar=VCV000009688; Zygosity=Heteroplasmic; Note=The donor fibroblasts were heteroplasmic in 68% of the cells, the iPSC in 8% of the cells (PubMed=38552355).
Disease Leber hereditary optic atrophy (NCIt: C84808)
Leber hereditary optic neuropathy (ORDO: Orphanet_104)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=38552355; DOI=10.1016/j.scr.2024.103406
Peron C., Cavaliere A., Fasano C., Iannielli A., Spagnolo M., Legati A., Colombo M.N., Rizzo A., Sciacca F.L., Carelli V., Broccoli V., Lamperti C., Tiranti V.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Stem Cell Res. 77:103406-103406(2024)

Cross-references
Cell line databases/resources hPSCreg; FINCBi006-A
Biological sample resources BioSamples; SAMEA115082791
Encyclopedic resources Wikidata; Q127380857
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2