ID   B-LCL-CDG1
AC   CVCL_C0VF
SY   CDG-LCL1; CDG-LCL I; LCL-1
DR   CLS; 302012
DR   Wikidata; Q112929244
RX   PubMed=9719677;
RX   PubMed=34420056;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (PubMed=34420056).
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Val231Met (c.691G>A); ClinVar=VCV000007719; Zygosity=Heterozygous (PubMed=34420056).
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=302012
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 8,10
ST   D16S539: 9,11
ST   D18S51: 15,19
ST   D21S11: 31
ST   D3S1358: 15,18
ST   D5S818: 12,13
ST   D7S820: 10,11
ST   D8S1179: 12
ST   FGA: 20,22
ST   Penta D: 11,12
ST   Penta E: 10
ST   TH01: 8,9
ST   TPOX: 9,11
ST   vWA: 17,19
DI   NCIt; C126868; Congenital disorder of glycosylation type Ia
DI   ORDO; Orphanet_79318; PMM2-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
//
RX   PubMed=9719677; DOI=10.1093/glycob/8.10.963;
RA   Bergmann M., Gross H.-J., Abdelatty F., Moller P., Jaeken J.,
RA   Schwartz-Albiez R.;
RT   "Abnormal surface expression of sialoglycans on B lymphocyte cell
RT   lines from patients with carbohydrate deficient glycoprotein syndrome
RT   I A (CDGS I A).";
RL   Glycobiology 8:963-972(1998).
//
RX   PubMed=34420056; DOI=10.1093/glycob/cwab087;
RA   Parrado A., Rubio-Pedraza G., Serrano M., De la Morena-Barrio M.E.,
RA   Ibanez-Mico S., Ruiz-Lafuente N., Schwartz-Albiez R., Esteve-Sole A.,
RA   Alsina L., Corral J., Hernandez-Caselles T.;
RT   "Dissecting the transcriptional program of phosphomannomutase
RT   2-deficient cells: lymphoblastoide B cell lines as a valuable model
RT   for congenital disorders of glycosylation studies.";
RL   Glycobiology 32:84-100(2022).
//