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Cellosaurus IAIi005-A (CVCL_C3RN)

[Text version]
Cell line name IAIi005-A
Synonyms AC52
Accession CVCL_C3RN
Resource Identification Initiative To cite this cell line use: IAIi005-A (RRID:CVCL_C3RN)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Population: Caucasian.
Donor information: At sampling donor was asymptomatic for amyotrophic lateral sclerosis.
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 Male
Age at sampling 89Y
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; IAIi005-A
Biological sample resources BioSamples; SAMEA111351711
Encyclopedic resources Wikidata; Q116049548
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3