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Cellosaurus hiPS-201B7-Rm (CVCL_WI46)

[Text version]
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; 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
Yoshida T., Ozawa Y., Suzuki K., Yuki K., Ohyama M., Akamatsu W., Matsuzaki Y., Shimmura S., Mitani K., Tsubota K., Okano H.
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 update29-Jun-2023
Version number9