ID   CRFi001-A
AC   CVCL_A1VZ
SY   iPS GM25383
DR   hPSCreg; CRFi001-A
DR   Wikidata; Q105506718
CC   From: Choroideremia Research Foundation; Springfield; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_BW52 ! GM25383
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
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