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Cellosaurus UWRBTi003-A (CVCL_A0ZF)

[Text version]
Cell line name UWRBTi003-A
Synonyms E1M40 1.4
Accession CVCL_A0ZF
Resource Identification Initiative To cite this cell line use: UWRBTi003-A (RRID:CVCL_A0ZF)
Comments From: Faculty of Biotechnology, University of Wroclaw; Wroclaw; Poland.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3331; EMD; Simple; p.Ser52Alafs*13 (c.153delC); ClinVar=VCV001074960; Zygosity=Hemizygous (from autologous cell lines UWRBTi003-B; UWRBTi003-C).
Disease Emery-Dreifuss muscular dystrophy 1, X-linked (NCIt: C168730)
X-linked Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_98863)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A0ZG ! UWRBTi003-B
Sex of cell Male
Age at sampling 40Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; UWRBTi003-A
Encyclopedic resources Wikidata; Q108821475
Entry history
Entry creation23-Sep-2021
Last entry update02-May-2024
Version number7