ID   GM21941
AC   CVCL_HK17
DR   Coriell; GM21941
DR   Wikidata; Q54852233
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Ile2118Ile (c.6354C>T); ClinVar=VCV000016449; Zygosity=Unspecified; Note=Causes in-frame skipping of exon 51 (Coriell=GM21941).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 15
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