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Cellosaurus IAIi008-A (CVCL_C3RR)

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Cell line name IAIi008-A
Synonyms DC2
Accession CVCL_C3RR
Resource Identification Initiative To cite this cell line use: IAIi008-A (RRID:CVCL_C3RR)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous (PubMed=36528014).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=36528014; DOI=10.1016/j.scr.2022.102998
Chiara Lattuada, Serena Santangelo, Silvia Peverelli, Philip McGoldrick, Ekaterina Rogaeva, Lorne Zinman, Georg Haase, Vincent Geli, Vincenzo Silani, Janice Robertson, Antonia Ratti, Patrizia Bossolasco;
Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.
Stem Cell Res. 66:102998-102998(2023)

Cross-references
Cell line databases/resources hPSCreg; IAIi008-A
Biological sample resources BioSamples; SAMEA111360385
Encyclopedic resources Wikidata; Q116049551
Entry history
Entry creation15-Dec-2022
Last entry update10-Apr-2025
Version number5