ID   GM20467
AC   CVCL_7661
SY   AG03970
DR   CLO; CLO_0029534
DR   BioSample; SAMN00805848
DR   Coriell; AG03970
DR   Coriell; GM20467
DR   Wikidata; Q54851040
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Gln202Ter (c.604C>T); ClinVar=VCV000001740; Zygosity=Heterozygous (Coriell=GM20467).
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (Coriell=GM20467).
CC   Discontinued: Coriell; AG03970; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C4681; Roberts-SC phocomelia syndrome
DI   ORDO; Orphanet_3103; Roberts syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7660 ! GM20466
SX   Female
AG   33Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 19
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