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Cellosaurus FINCBi005-A (CVCL_D6I4)

[Text version]
Cell line name FINCBi005-A
Synonyms mt1072 clone #103; mt1072 #103; #103
Accession CVCL_D6I4
Resource Identification Initiative To cite this cell line use: FINCBi005-A (RRID:CVCL_D6I4)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Population: Caucasian.
Donor information: Established from monozygotic twin of FINCBi006-A (Cellosaurus=CVCL_D6I5). The donor for FINCBi005-A is affected with LHON while its sibling is not affected (PubMed=38552355).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7460; MT-ND4L; Simple; p.Ala71Thr (m.10680G>A); ClinVar=VCV000693310; Zygosity=Homoplasmic; Note=The donor fibroblasts were heteroplasmic in 73% of the cells (PubMed=38552355).
  • Mutation; HGNC; HGNC:7462; MT-ND6; Simple; p.Met64Val (m.14484T>C); ClinVar=VCV000009688; Zygosity=Homoplasmic; Note=The donor fibroblasts were heteroplasmic in 70% 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; FINCBi005-A
Biological sample resources BioSamples; SAMEA115082457
Encyclopedic resources Wikidata; Q127380856
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3