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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
Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli ...Show all 13 authors... , Costanza Lamperti, Valeria Tiranti; Show fewer authors
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