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Cellosaurus FINCBi003-A (CVCL_A4XE)

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Cell line name FINCBi003-A
Synonyms mt8792#118
Accession CVCL_A4XE
Resource Identification Initiative To cite this cell line use: FINCBi003-A (RRID:CVCL_A4XE)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Population: Caucasian.
Omics: Variations; Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:Group_1972; MT-@; Unexplicit; m.8469_13460del; Zygosity=Heteroplasmic; Note=In 30% (PubMed=33434818).
Disease Pearson syndrome (NCIt: C115326)
Pearson syndrome (ORDO: Orphanet_699)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=33434818; DOI=10.1016/j.scr.2020.102151
Camille Peron, Roberta Mauceri, Angelo Iannielli, Andrea Cavaliere, Andrea Legati, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valeria Tiranti;
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.
Stem Cell Res. 50:102151-102151(2021)

Cross-references
Cell line databases/resources hPSCreg; FINCBi003-A
Encyclopedic resources Wikidata; Q107115016
Entry history
Entry creation20-May-2021
Last entry update10-Apr-2025
Version number7