ID   GM13441
AC   CVCL_5P79
DR   CLO; CLO_0012669
DR   BioSample; SAMN00802380
DR   Coriell; GM13441
DR   Wikidata; Q54846531
RX   PubMed=22639450;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Ser1481Gly (c.4441A>G); ClinVar=VCV000036074; Zygosity=Unspecified; Note=VUS (PubMed=22639450).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C124840; Shprintzen-Goldberg craniosynostosis syndrome
DI   ORDO; Orphanet_2462; Shprintzen-Goldberg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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RX   PubMed=22639450; DOI=10.1002/ajmg.a.35388;
RA   Shanske A.L., Goodrich J.T., Ala-Kokko L., Baker S., Frederick B.,
RA   Levy B.;
RT   "Germline mosacism in Shprintzen-Goldberg syndrome.";
RL   Am. J. Med. Genet. A 158:1574-1578(2012).
//