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Cellosaurus IAIi006-A (CVCL_C3RP)

[Text version]
Cell line name IAIi006-A
Synonyms BC6
Accession CVCL_C3RP
Resource Identification Initiative To cite this cell line use: IAIi006-A (RRID:CVCL_C3RP)
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 65Y
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; IAIi006-A
Biological sample resources BioSamples; SAMEA111353514
Encyclopedic resources Wikidata; Q116049549
Entry history
Entry creation15-Dec-2022
Last entry update30-Jan-2024
Version number4