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Cellosaurus hiPS-RP#5Rw (CVCL_WI45)

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Cell line name hiPS-RP#5Rw
Synonyms RP#5Rw; #5Rw
Accession CVCL_WI45
Resource Identification Initiative To cite this cell line use: hiPS-RP#5Rw (RRID:CVCL_WI45)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10012; RHO; Simple_corrected; p.Glu181Lys (c.541G>A); ClinVar=VCV000196282; Zygosity=Heterozygous; Note=By helper-dependent adenoviral vector (PubMed=24935155).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WI44 (hiPS-RP#5)
Sex of cell Female
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=24935155; DOI=10.1186/1756-6606-7-45; PMCID=PMC4058693
Tetsu Yoshida, Yoko Ozawa, Keiichiro Suzuki, Kenya Yuki, Manabu Ohyama, Wado Akamatsu, Yumi Matsuzaki, Shigeto Shimmura, Kohnosuke Mitani, Kazuo Tsubota, Hideyuki Okano;
The use of induced pluripotent stem cells to reveal pathogenic gene mutations and explore treatments for retinitis pigmentosa.
Mol. Brain 7:45.1-45.11(2014)

Cross-references
Cell line databases/resources SKIP; SKIP001133
Encyclopedic resources Wikidata; Q94209705
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9