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Cellosaurus IAIi008-A (CVCL_C3RR)

[Text version]
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; 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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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
Lattuada C., Santangelo S., Peverelli S., McGoldrick P., Rogaeva E., Zinman L., Haase G., Geli V., Silani V., Robertson J., Ratti A., Bossolasco P.
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 update29-Jun-2023
Version number3