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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 sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 2343; CRB1; Simple; p.Ile205Aspfs*13 (c.613_619delATAGGAA); ClinVar=VCV000099913; Zygosity=Heterozygous (PubMed=33773389).
Mutation; HGNC; 2343; CRB1; Simple; p.Ile167_Gly169del (c.498_506delAATTGATGG); ClinVar=VCV000096659; 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
Publications

PubMed=33773389; DOI=10.1016/j.scr.2021.102301
Canibano-Hernandez A., Valdes-Sanchez L.M., Garcia-Delgado A.B., Ponte-Zuniga B., Diaz-Corrales F.J., de la Cerda B.
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
Other Wikidata; Q105506852
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2