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Cellosaurus hiPS-201B7-Rm (CVCL_WI46)

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Cell line name hiPS-201B7-Rm
Synonyms B7Rm
Accession CVCL_WI46
Resource Identification Initiative To cite this cell line use: hiPS-201B7-Rm (RRID:CVCL_WI46)
Comments 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:10012; RHO; Simple_edited; 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_A324 (201B7)
Sex of cell Female
Age at sampling 36Y
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; SKIP001134
Encyclopedic resources Wikidata; Q94209221
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number10