ID   GM20328
AC   CVCL_9Y55
DR   CLO; CLO_0027877
DR   Coriell; GM20328
DR   Wikidata; Q54850940
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Asn308del (c.922_924del) (N281del); Zygosity=Heterozygous (Coriell=GM20328).
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Unexplicit; IVS13+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20328).
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   2M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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