ID   B-LCL-CDG7
AC   CVCL_A9Y3
DR   CLS; 302018
DR   Wikidata; Q102113581
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10702; SEC23B; Unexplicit; Not described; Zygosity=Homozygous (CLS=302018).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: B-cell; CL=CL_0000236.
ST   Source(s): CLS=302018
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 12,14
ST   D16S539: 10,12
ST   D18S51: 13,16
ST   D21S11: 30
ST   D3S1358: 17,18
ST   D5S818: 11,12
ST   D7S820: 8,10
ST   D8S1179: 11,13
ST   FGA: 21,24
ST   Penta D: 9,14
ST   Penta E: 7,12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C175991; Congenital dyserythropoietic anemia type II
DI   ORDO; Orphanet_98873; Congenital dyserythropoietic anemia type II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
//