Cellosaurus logo
expasy logo

Cellosaurus ESi132-A (CVCL_E3V2)

[Text version]
Cell line name ESi132-A
Synonyms PRPF3181-MiPS4F5
Accession CVCL_E3V2
Resource Identification Initiative To cite this cell line use: ESi132-A (RRID:CVCL_E3V2)
Comments From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Trp55Ter (c.165G>A); ClinVar=VCV000804153; Zygosity=Heterozygous (BNLC).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO11,12
D2S133817
D3S135814,18
D5S81811,12
D7S8209,11
D8S117910,13
D13S31711
D16S53911,12
D18S5113,14
D19S43312,15.2
D21S1130,31
FGA21
TH017,9
TPOX10,11
vWA16,18

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/documents/20119/e5d92f04-20bb-0142-b660-8dc2fc581c0e
https://www.isciii.es/documents/20119/41d78b58-6e32-133c-6cae-2e3dafd9776b
Cross-references
Cell line databases/resources hPSCreg; ESi132-A
Biological sample resources BioSamples; SAMEA115425275
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1