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Cellosaurus LEIi015-B (CVCL_A4CP)

[Text version]

Cell line name LEIi015-B
Synonyms 1042ips4
Accession CVCL_A4CP
Resource Identification Initiative To cite this cell line use: LEIi015-B (RRID:CVCL_A4CP)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 30859; SNRNP200; Simple; p.Arg598Cys (c.1792C>T); ClinVar=VCV000839536; Zygosity=Heterozygous (PubMed=33429167).
Mutation; 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_A4CN ! LEIi015-A
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=33429167; DOI=10.1016/j.scr.2020.102154
Zhang D., McLenachan S., Chen S.-C., Zaw K., Alziyadat Y., Zhang X., Lamey T.M., Thompson J.A., McLaren T.L., Mellough C., De Roach J.N., Chen F.K.
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-B
Encyclopedic resources Wikidata; Q105509882
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2