ID   GM18180
AC   CVCL_5Q84
DR   Coriell; GM18180
DR   Wikidata; Q54849477
RX   PubMed=22639450;
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C124840; Shprintzen-Goldberg craniosynostosis syndrome
DI   ORDO; Orphanet_2462; Shprintzen-Goldberg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 7
//
RX   PubMed=22639450; DOI=10.1002/ajmg.a.35388;
RA   Shanske, Alan L.
RA   Goodrich, James Tait
RA   Ala-Kokko, Leena
RA   Baker, Stuart
RA   Frederick, Barbara
RA   Levy, Brynn
RT   "Germline mosacism in Shprintzen-Goldberg syndrome.";
RL   Am. J. Med. Genet. A 158:1574-1578(2012).
//