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Cellosaurus WFS1 FiPS 04-Ep6F-3 (CVCL_E7TJ)

[Text version]
Cell line name WFS1 FiPS 04-Ep6F-3
Accession CVCL_E7TJ
Resource Identification Initiative To cite this cell line use: WFS1 FiPS 04-Ep6F-3 (RRID:CVCL_E7TJ)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Universidad Autonoma de Barcelona; Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Ser430Ter (c.1289C>A); ClinVar=VCV002043736; Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Val491_Pro492insLeuIleThrVal (c.1463_1474dupTCATCACCGTGC); Zygosity=Heterozygous (BNLC).
Disease Wolfram syndrome (NCIt: C35133)
Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_E7TK ! WFS1 FiPS 04-Ep6F-10
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10,12
D2S133823,25
D3S135816,17
D5S81811,13
D7S8209
D8S117911,12
D13S31710,13
D16S5399,12
D18S5114,16
D19S43312,15
D21S1131,32.2
FGA22,22.2
TH019,9.3
TPOX8,11
vWA15,18

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/0/Anexo_dep%C3%B3sito_WFS1+FiPS+04-Ep6F-3+%282%29.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_WFS1+FiPS+04-Ep6F-3+%282%29.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1