ID   GM24646
AC   CVCL_AZ42
DR   Coriell; GM24646
DR   Wikidata; Q54853819
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:12597; USH1C; Simple; p.Arg80Profs*69 (c.238dupC) (c.238_239insC); ClinVar=VCV000005141; Zygosity=Homozygous (Coriell=GM24646).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126327; Usher syndrome type 1
DI   ORDO; Orphanet_231169; Usher syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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