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Cellosaurus CSSi014-A (CVCL_B7SH)

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Cell line name CSSi014-A
Synonyms CSSi014-A (9407); 9407; MPS II 9991 IPS cl H
Accession CVCL_B7SH
Resource Identification Initiative To cite this cell line use: CSSi014-A (RRID:CVCL_B7SH)
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:5389; IDS; Simple; p.Pro160Leu (c.479C>T); Zygosity=Hemizygous (PubMed=35759972).
Disease Hunter syndrome (NCIt: C61260)
Mucopolysaccharidosis type 2 (ORDO: Orphanet_580)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=35759972; DOI=10.1016/j.scr.2022.102846
Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Diana Rosati;
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Stem Cell Res. 63:102846-102846(2022)

Cross-references
Cell line databases/resources hPSCreg; CSSi014-A
Biological sample resources BioSamples; SAMEA14252991
Encyclopedic resources Wikidata; Q112929420
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5