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Cellosaurus ESi077-A (CVCL_UJ71)

[Text version]

Cell line name ESi077-A
Synonyms OF0081-PRPF31c3; PRPF31-MiPS4F3; CABi001-A
Accession CVCL_UJ71
Resource Identification Initiative To cite this cell line use: ESi077-A (RRID:CVCL_UJ71)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
Population: Caucasian.
Caution: The second allele of D7S820 is unreadable in the cell line documentation.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 15446; PRPF31; Simple; p.Leu55Leu (c.165G>A); Zygosity=Heterozygous (PubMed=30921587).
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 70Y
Category Induced pluripotent stem cell
STR profile Source(s): Spanish_Stem_Cell_Bank

Markers:
AmelogeninX
CSF1PO8,12
D5S81811,12
D7S8209
D13S3178,11
D16S5399,12
D21S1130,31
TH019,9.3
TPOX10,11
vWA17,18

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Caracteristicas%20-%20Solicitud%20depo%cc%81sito%20PRPF31-MiPS4F3_v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/205/Anexo%20-%20anexos%20deposito%20li%cc%81nea%20PRPF31-MiPS4F3_v2.pdf
Publications

PubMed=30921587; DOI=10.1016/j.scr.2019.101426
de la Cerda B., Diez-Lloret A., Ponte B., Valles-Saiz L., Calado S.M., Rodriguez-Bocanegra E., Garcia-Delgado A.B., Moya-Molina M., Bhattacharya S.S., Diaz-Corrales F.J.
Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
Stem Cell Res. 36:101426-101426(2019)

Cross-references
Cell line databases/resources hPSCreg; ESi077-A
Biological sample resources BioSamples; SAMEA7484330
Encyclopedic resources Wikidata; Q93545418
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number7