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Cellosaurus ESi082-A (CVCL_A1ZA)

[Text version]
Cell line name ESi082-A
Synonyms CRB1-MiPS4F1
Accession CVCL_A1ZA
Resource Identification Initiative To cite this cell line use: ESi082-A (RRID:CVCL_A1ZA)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Ile167_Gly169del (c.498_506delAATTGATGG); ClinVar=VCV000096659; Zygosity=Heterozygous (PubMed=33773389).
  • Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Ile205Aspfs*13 (c.613_619delATAGGAA); ClinVar=VCV000099913; Zygosity=Heterozygous (PubMed=33773389).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81811,12
D7S8208,9
D13S31712,13
D16S53912
D21S1128,31
TH016,9
TPOX8
vWA16,18

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+CRB1-MiPS4F1-Solicitud+de+dep%C3%B3sito-v3.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/CRB1-MiPS4F1-Anexo-v3.pdf
Publications

PubMed=33773389; DOI=10.1016/j.scr.2021.102301
Alberto Canibano-Hernandez, Lourdes M. Valdes-Sanchez, Ana Belen Garcia-Delgado, Beatriz Ponte-Zuniga, Francisco Javier Diaz-Corrales, Berta de la Cerda Haynes;
Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene.
Stem Cell Res. 53:102301-102301(2021)

Cross-references
Cell line databases/resources hPSCreg; ESi082-A
Biological sample resources BioSamples; SAMEA8028721
Encyclopedic resources Wikidata; Q105506852
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number6