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Cellosaurus LEIi004-A-1 (CVCL_VE94)

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Cell line name LEIi004-A-1
Synonyms L4-A-1
Accession CVCL_VE94
Resource Identification Initiative To cite this cell line use: LEIi004-A-1 (RRID:CVCL_VE94)
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; HGNC:2074; CLN3; Simple_corrected; p.Ala59Thr (c.175G>A); ClinVar=VCV000950856; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=29753273).
  • Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (PubMed=29753273).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VE61 (LEIi004-A)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=29753273; DOI=10.1016/j.scr.2018.04.014
Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan;
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line.
Stem Cell Res. 29:245-249(2018)

Cross-references
Cell line databases/resources hPSCreg; LEIi004-A-1
Biological sample resources BioSamples; SAMEA4760675
Encyclopedic resources Wikidata; Q54902438
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11