ID   GM20032
AC   CVCL_9Y50
DR   CLO; CLO_0028355
DR   Coriell; GM20032
DR   Wikidata; Q54850787
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Leu120Gln (c.359T>A) (L93Q); Zygosity=Heterozygous (Coriell=GM20032).
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Tyr1149Ter (c.3447C>A) (Y1122*); Zygosity=Heterozygous (Coriell=GM20032).
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   Female
AG   0-3M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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