ID   GM20033
AC   CVCL_9Y51
DR   CLO; CLO_0028356
DR   Coriell; GM20033
DR   Wikidata; Q54850788
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Ser350Leu (c.1049C>T) (S323L); Zygosity=Homozygous (Coriell=GM20033).
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: 12
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