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Cellosaurus GNB1 FiPS3-Ep6F-2 (CVCL_E7SX)

[Text version]
Cell line name GNB1 FiPS3-Ep6F-2
Accession CVCL_E7SX
Resource Identification Initiative To cite this cell line use: GNB1 FiPS3-Ep6F-2 (RRID:CVCL_E7SX)
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.Leu95Pro (c.284T>C); ClinVar=VCV000224716; 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 Female
Age at sampling 6Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10,11
D5S8189,11
D7S82010,12
D13S31711
D16S53911,12
D21S1128,29
TH016,10
TPOX9,11
vWA16,17

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Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+GNB1+FiPS3-Ep6F-2+Solicitud+de+dep%C3%B3sito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+GNB1+FiPS3-Ep6F-2+Anexo.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1