ID   GM24589
AC   CVCL_AZ38
DR   Coriell; GM24589
DR   Wikidata; Q54853790
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:17416; ADGRV1; Simple; p.Ser2934Ter (c.8801C>A); Zygosity=Heterozygous (Coriell=GM24589).
CC   Sequence variation: Mutation; HGNC; HGNC:17416; ADGRV1; Simple; c.14973-2A>G; ClinVar=VCV000046275; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM24589).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C153174; Usher syndrome type 2C
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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