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Cellosaurus ESi119-A (CVCL_E3UV)

[Text version]
Cell line name ESi119-A
Synonyms SPG FiPS1-Ep6F-4
Accession CVCL_E3UV
Resource Identification Initiative To cite this cell line use: ESi119-A (RRID:CVCL_E3UV)
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 4Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO10
D5S81811,12
D7S8208,11
D13S3178,12
D16S53911,14
D21S1128,29
TH016,9.3
TPOX8
vWA15

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/documents/20119/70a2aaa5-b3ed-3677-afdb-ae273288c08b
https://www.isciii.es/documents/20119/f9bdf1d9-76cf-c61c-a16a-cfbd98317bc5
Cross-references
Cell line databases/resources hPSCreg; ESi119-A
Biological sample resources BioSamples; SAMEA115045326
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1