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Cellosaurus GNB1 FiPS1-Ep6F-1 (CVCL_E7SV)

[Text version]
Cell line name GNB1 FiPS1-Ep6F-1
Accession CVCL_E7SV
Resource Identification Initiative To cite this cell line use: GNB1 FiPS1-Ep6F-1 (RRID:CVCL_E7SV)
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:4396; GNB1; Simple; p.Ile80Thr (c.239T>C); ClinVar=VCV000208722; Zygosity=Unspecified (BNLC).
Disease Intellectual developmental disorder, autosomal dominant 42 (NCIt: C215154)
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORDO: Orphanet_488613)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81810,11
D7S82011
D13S3178,13
D16S53911,13
D21S1130
TH018,9.3
TPOX8
vWA18

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+GNB1+FiPS1-Ep6F-1+Solicitud+de+dep%C3%B3sito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/GNB1%2520FiPS1-Ep6F-1%2520Anexo.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1