ID   GM21872
AC   CVCL_7663
DR   Coriell; GM21872
DR   Wikidata; Q54852192
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys103Glufs*2 (c.307_311delAAAGA) (I102fs*1); ClinVar=VCV000021243; Zygosity=Homozygous (Coriell=GM21872).
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_5R39 ! GM21871
SX   Female
AG   25FW
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 16
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