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Cellosaurus SPG FiPS2-Ep6F-8 (CVCL_E7SZ)

[Text version]
Cell line name SPG FiPS2-Ep6F-8
Accession CVCL_E7SZ
Resource Identification Initiative To cite this cell line use: SPG FiPS2-Ep6F-8 (RRID:CVCL_E7SZ)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); 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:575; AP4S1; Simple; p.Arg97Ter (c.289C>T); ClinVar=VCV000234924; Zygosity=Homozygous (BNLC).
Disease Spastic paraplegia 52, autosomal recessive (NCIt: C212890)
Severe intellectual disability and progressive spastic paraplegia (ORDO: Orphanet_280763)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO9,10
D5S81811,12
D7S8208,9
D13S31710,12
D16S53911
D21S1128,31.2
TH016,9.3
TPOX8,11
vWA15,16

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+SPG+FiPS2-Ep6F-8+Solicitud+de+dep%C3%B3sito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/SPG%2520FiPS2-Ep6F-8%2520Anexo.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1