ID   GM21995
AC   CVCL_HQ15
DR   Coriell; GM21995
DR   Wikidata; Q54852277
CC   Sequence variation: Mutation; HGNC; HGNC:3604; FBN2; Simple; p.Asp1115His (c.3343G>C) (D1114H, 3340G>C); ClinVar=VCV000000525; Zygosity=Unspecified (Coriell=GM21995).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129865; Congenital contractural arachnodactyly
DI   ORDO; Orphanet_115; Congenital contractural arachnodactyly
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   67Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//