ID   GM27987
AC   CVCL_C7LK
DR   Coriell; GM27987
DR   Wikidata; Q117704362
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:7027; MERTK; Simple; p.Ala258Glu (c.773C>A); ClinVar=VCV000330747; Zygosity=Heterozygous (Coriell=GM27987).
CC   Sequence variation: Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Gln389Ter (c.1165C>T); ClinVar=VCV001297104; Zygosity=Heterozygous (Coriell=GM27987).
CC   Sequence variation: Mutation; HGNC; HGNC:28396; TMEM67; Simple; p.Gly195Ilefs*13 (c.579_580delAG); ClinVar=VCV000056783; Zygosity=Heterozygous (Coriell=GM27987).
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)
SX   Male
AG   21Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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