ID   B-LCL-CDG4
AC   CVCL_A9Y2
DR   CLS; 302015
DR   Wikidata; Q102113580
CC   Population: Caucasian.
CC   HLA typing: A*01:01:01,24:02:01; B*08:01:01,18:01:01; C*07:01:01,12:03:01; DPB1*03:01:01,04:02:01; DQA1*01:02:01,05:01:01; DQB1*02:01:01,06:02:01; DRB1*03:01:01,15:01:01 (CLS=302015).
CC   Sequence variation: Mutation; HGNC; HGNC:10702; SEC23B; Unexplicit; Not described; Zygosity=Homozygous (CLS=302015).
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=302015
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8,13
ST   D16S539: 11,12
ST   D18S51: 14,16
ST   D21S11: 30
ST   D3S1358: 16,17
ST   D5S818: 11
ST   D7S820: 8,14
ST   D8S1179: 13
ST   FGA: 23,23.2
ST   Penta D: 8,12
ST   Penta E: 7,19
ST   TH01: 6,9
ST   TPOX: 8
ST   vWA: 16
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   Female
AG   Children
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
//