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Cellosaurus UUIGPi015-A (CVCL_B5GU)

[Text version]
Cell line name UUIGPi015-A
Synonyms DD3A
Accession CVCL_B5GU
Resource Identification Initiative To cite this cell line use: UUIGPi015-A (RRID:CVCL_B5GU)
Comments From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene deletion; HGNC; 10585; SCN1A; Zygosity=Heterozygous; Note=2,9 Mbp deletion that spans 10 genes (PubMed=35203050).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=35203050; DOI=10.1016/j.scr.2022.102712
Schuster J., de Guidi C., Tripathi R., Klar J., Dahl N.
Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.
Stem Cell Res. 60:102712-102712(2022)

Cross-references
Cell line databases/resources hPSCreg; UUIGPi015-A
Encyclopedic resources Wikidata; Q110433952
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5