ID   GM21936
AC   CVCL_HK12
DR   Coriell; GM21936
DR   Wikidata; Q54852227
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; c.3839-1G>A (IVS30-1G>A) (Ex31del); Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM21936).
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: 13
//