ID   hiPS-RP#5Rw
AC   CVCL_WI45
SY   RP#5Rw; #5Rw
DR   SKIP; SKIP001133
DR   Wikidata; Q94209705
RX   PubMed=24935155;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:10012; RHO; Simple_corrected; p.Glu181Lys (c.541G>A); ClinVar=VCV000196282; Zygosity=Heterozygous; Note=By helper-dependent adenoviral vector (PubMed=24935155).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WI44 ! hiPS-RP#5
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 9
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RX   PubMed=24935155; DOI=10.1186/1756-6606-7-45; PMCID=PMC4058693;
RA   Yoshida T., Ozawa Y., Suzuki K., Yuki K., Ohyama M., Akamatsu W.,
RA   Matsuzaki Y., Shimmura S., Mitani K., Tsubota K., Okano H.;
RT   "The use of induced pluripotent stem cells to reveal pathogenic gene
RT   mutations and explore treatments for retinitis pigmentosa.";
RL   Mol. Brain 7:45.1-45.11(2014).
//