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Cellosaurus CSSi019-A (CVCL_E3CM)

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Cell line name CSSi019-A
Synonyms CSSi019-A (14432); 14432; A1150 Asymptomatic cl 7
Accession CVCL_E3CM
Resource Identification Initiative To cite this cell line use: CSSi019-A (RRID:CVCL_E3CM)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian.
Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous; Note=Has 36 repeats (PubMed=39191178).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 76Y
Category Induced pluripotent stem cell
Publications

PubMed=39191178; DOI=10.1016/j.scr.2024.103540
Giorgia Ruotolo, Angela D'Anzi, Angela Maria Giada Giovenale, C. Giacometti, Daniela Ferrari, Edvige Vulcano, Maria Cecilia D'Asdia, Serena Lattante, Mario Sabatelli, Franca Codazzi, Gian Giacomo Consalez ...Show all 16 authors... , Massimo Marano, Vincenzo Di Lazzaro, Maria Pennuto, Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors
Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene.
Stem Cell Res. 81:103540-103540(2024)

Cross-references
Cell line databases/resources hPSCreg; CSSi019-A
Biological sample resources BioSamples; SAMEA115741727
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2