ID   B-LCL-CDG19
AC   CVCL_C0VS
SY   LCL-19
DR   Wikidata; Q112929255
RX   PubMed=34420056;
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.Cys241Ser (c.722G>C); ClinVar=VCV000007717; 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.
DI   NCIt; C126868; Congenital disorder of glycosylation type Ia
DI   ORDO; Orphanet_79318; PMM2-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
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).
//