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Cellosaurus UNIBSi017-A (CVCL_B7EZ)

[Text version]
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
Calamaio S., Serzanti M., Morlino S., Massardi M., Ritelli M., Piovani G., Colombi M., Cortellini V., Castori M., Dell'Era P., Micale L.
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