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Cellosaurus CSSi014-A (CVCL_B7SH)

[Text version]
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
Casamassa A., Zanetti A., Ferrari D., Lombardi I., Galluzzi G., D'Avanzo F., Cipressa G., Bertozzi A., Torrente I., Vescovi A.L., Tomanin R., Rosati J.D.
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