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Cellosaurus FINCBi002-A (CVCL_A4XD)

[Text version]
Cell line name FINCBi002-A
Synonyms mt8742#118
Accession CVCL_A4XD
Resource Identification Initiative To cite this cell line use: FINCBi002-A (RRID:CVCL_A4XD)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; Group_1972; MT-@; Unexplicit; m.9449_14550del; Zygosity=Heteroplasmic; Note=In 80% (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 5M
Category Induced pluripotent stem cell

PubMed=33434818; DOI=10.1016/j.scr.2020.102151
Peron C., Mauceri R., Iannielli A., Cavaliere A., Legati A., Rizzo A., Sciacca F.L., Broccoli V., Tiranti V.
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)

Cell line databases/resources hPSCreg; FINCBi002-A
Encyclopedic resources Wikidata; Q107115013
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5