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Cellosaurus CSSi003-A (CVCL_VD30)

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Cell line name CSSi003-A
Synonyms CSSi003-A (2961); 2961; COL04 clE2
Accession CVCL_VD30
Resource Identification Initiative To cite this cell line use: CSSi003-A (RRID:CVCL_VD30)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian; Italian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9834; RAI1; Simple; p.Ser399Profs*40 (c.1194delC); Zygosity=Heterozygous (PubMed=29494847).
Disease Smith-Magenis syndrome (NCIt: C75469)
Smith-Magenis syndrome (ORDO: Orphanet_819)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=29494847; DOI=10.1016/j.scr.2018.02.016
Filomena Altieri, Elisa Maria Turco, Ersilia Vinci, Barbara Torres, Daniela Ferrari, Antonella De Jaco, Gianluigi Mazzoccoli, Giuseppe Lamorte, Annamaria Nardone, Matteo Della Monica, Laura Bernardini ...Show all 13 authors... , Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, causative of Smith-Magenis syndrome.
Stem Cell Res. 28:153-156(2018)

Cross-references
Cell line databases/resources hPSCreg; CSSi003-A
SKIP; SKIP003154
Biological sample resources BioSamples; SAMEA104621351
Encyclopedic resources Wikidata; Q54814681
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11