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Cellosaurus LEIi015-A (CVCL_A4CN)

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Cell line name LEIi015-A
Synonyms 1042ips1
Accession CVCL_A4CN
Resource Identification Initiative To cite this cell line use: LEIi015-A (RRID:CVCL_A4CN)
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:30859; SNRNP200; Simple; p.Arg598Cys (c.1792C>T); ClinVar=VCV000839536; Zygosity=Heterozygous (PubMed=33429167).
  • Mutation; HGNC; HGNC:30859; SNRNP200; Simple; p.Leu1114Pro (c.3341T>C); Zygosity=Heterozygous (PubMed=33429167).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4CP ! LEIi015-B
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=33429167; DOI=10.1016/j.scr.2020.102154
Dan Zhang, Samuel McLenachan, Shang-Chih Chen, Khine Zaw, Yaqin Alziyadat, Xiao Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Carla B. Mellough, John N. De Roach, Fred K. Chen;
Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.
Stem Cell Res. 51:102154-102154(2021)

Cross-references
Cell line databases/resources hPSCreg; LEIi015-A
Encyclopedic resources Wikidata; Q105509879
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6