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Cellosaurus LEIi005-B (CVCL_WJ45)

[Text version]
Cell line name LEIi005-B
Synonyms RP1ips6
Accession CVCL_WJ45
Resource Identification Initiative To cite this cell line use: LEIi005-B (RRID:CVCL_WJ45)
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:10263; RP1; Simple; p.Glu700Ter (c.2098G>T); Zygosity=Heterozygous (PubMed=31059986).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VE62 ! LEIi005-A
Sex of cell Female
Age at sampling 76Y
Category Induced pluripotent stem cell
Publications

PubMed=31059986; DOI=10.1016/j.scr.2019.101452
Zhang X., Moon S.Y., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., McLenachan S., Chen F.K.
Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.
Stem Cell Res. 37:101452-101452(2019)

Cross-references
Cell line databases/resources hPSCreg; LEIi005-B
Encyclopedic resources Wikidata; Q95982053
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9