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Cellosaurus UNIBSi017-A (CVCL_B7EZ)

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Cell line name UNIBSi017-A
Synonyms EDS1331-iPSC; EDS1331
Accession CVCL_B7EZ
Resource Identification Initiative To cite this cell line use: UNIBSi017-A (RRID:CVCL_B7EZ)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Karyotypic information: 45,XX,rob(13;14)(q10;q10) (PubMed=35700636).
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:6859; MAP3K7; Simple; p.Asn245_Gly246insValVal (c.737-7A>G) (IVS7AS,A-G,-7); ClinVar=VCV000974910; Zygosity=Heterozygous (PubMed=35700636).
Disease Cardiospondylocarpofacial syndrome (NCIt: C188216)
Cardiospondylocarpofacial syndrome (ORDO: Orphanet_3238)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=35700636; DOI=10.1016/j.scr.2022.102837
Serena Calamaio, Marialaura Serzanti, Silvia Morlino, Marialuisa Massardi, Marco Ritelli, Giovanna Piovani, Marina Colombi, Venusia Cortellini, Marco Castori, Patrizia Dell'Era, Lucia Micale;
Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.
Stem Cell Res. 63:102837-102837(2022)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi017-A
Biological sample resources BioSamples; SAMEA14099154
Encyclopedic resources Wikidata; Q112930522
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5