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Cellosaurus LEIi006-A (CVCL_VN41)

[Text version]
Cell line name LEIi006-A
Synonyms 1004CRB1iPS6
Accession CVCL_VN41
Resource Identification Initiative To cite this cell line use: LEIi006-A (RRID:CVCL_VN41)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2343; CRB1; Simple; p.Tyr631Cys (c.1892A>G); ClinVar=VCV000636015; Zygosity=Heterozygous (PubMed=30092450).
  • Mutation; HGNC; 2343; CRB1; Simple; p.Gly850Ser (c.2548G>A); ClinVar=VCV000565382; Zygosity=Heterozygous (PubMed=30092450).
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 51Y
Category Induced pluripotent stem cell
Publications

PubMed=30092450; DOI=10.1016/j.scr.2018.08.001
Zhang X., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Chen F.K., McLenachan S.
Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.
Stem Cell Res. 31:147-151(2018)

Cross-references
Cell line databases/resources hPSCreg; LEIi006-A
Biological sample resources BioSamples; SAMEA4760627
Encyclopedic resources Wikidata; Q95982054
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number9