ID   FINCBi006-A
AC   CVCL_D6I5
SY   mt1108 clone #121; mt1108 #121; #121
DR   BioSamples; SAMEA115082791
DR   hPSCreg; FINCBi006-A
DR   Wikidata; Q127380857
RX   PubMed=38552355;
CC   From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Sequence variation: 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).
CC   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).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=38552355; DOI=10.1016/j.scr.2024.103406;
RA   Peron C., Cavaliere A., Fasano C., Iannielli A., Spagnolo M.,
RA   Legati A., Colombo M.N., Rizzo A., Sciacca F.L., Carelli V.,
RA   Broccoli V., Lamperti C., Tiranti V.;
RT   "Generation of iPSCs from identical twin, one affected by LHON and one
RT   unaffected, both carrying a combination of two mitochondrial
RT   variants: m.14484 T>C and m.10680G>A.";
RL   Stem Cell Res. 77:103406-103406(2024).
//