ID   GM21654
AC   CVCL_EG00
DR   CLO; CLO_0013970
DR   Coriell; GM21654
DR   Wikidata; Q54852057
RX   PubMed=30804344;
CC   Sequence variation: Mutation; HGNC; HGNC:30794; CEP57; Simple; p.Glu174Thrfs*4 (c.518_519GA[1]) (c.520_521delGA); ClinVar=VCV000030690; Zygosity=Heterozygous (PubMed=30804344).
CC   Sequence variation: Mutation; HGNC; HGNC:30794; CEP57; Simple; p.Leu309Profs*9 (c.915_925dup11) (p.His317fs); ClinVar=VCV000030691; Zygosity=Heterozygous (PubMed=30804344).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168989; Mosaic variegated aneuploidy syndrome 2
DI   ORDO; Orphanet_1052; Mosaic variegated aneuploidy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=30804344; DOI=10.1038/s41467-019-08862-2; PMCID=PMC6389942;
RA   Watanabe K., Takao D., Ito K.K., Takahashi M., Kitagawa D.;
RT   "The Cep57-pericentrin module organizes PCM expansion and centriole
RT   engagement.";
RL   Nat. Commun. 10:931.1-931.13(2019).
//