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; 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; 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: 19-12-24; Version: 3
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RX   PubMed=38552355; DOI=10.1016/j.scr.2024.103406;
RA   Peron, Camille
RA   Cavaliere, Andrea
RA   Fasano, Chiara
RA   Iannielli, Angelo
RA   Spagnolo, Manuela
RA   Legati, Andrea
RA   Colombo, Maria Nicol
RA   Rizzo, Ambra
RA   Sciacca, Francesca L.
RA   Carelli, Valerio
RA   Broccoli, Vania
RA   Lamperti, Costanza
RA   Tiranti, Valeria
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).
//