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Cellosaurus CSSi003-A (CVCL_VD30)

[Text version]
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; 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
Altieri F., Turco E.M., Vinci E., Torres B., Ferrari D., De Jaco A., Mazzoccoli G., Lamorte G., Nardone A., Della Monica M., Bernardini L., Vescovi A.L., Rosati J.
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 update29-Jun-2023
Version number10