ID   GM20035
AC   CVCL_9Y53
DR   CLO; CLO_0028358
DR   Coriell; GM20035
DR   Wikidata; Q54850790
CC   Population: Kurdistani.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Arg924Ter (c.2770C>T) (R897*); ClinVar=VCV000014686; Zygosity=Heterozygous (Coriell=GM20035).
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Arg1119Trp (c.3355C>T) (R1092W); Zygosity=Heterozygous (Coriell=GM20035).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84676; Donohue syndrome
DI   ORDO; Orphanet_508; Leprechaunism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   0-9M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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