Cellosaurus logo
expasy logo

Cellosaurus B-LCL-CDG11 (CVCL_C0VJ)

[Text version]
Cell line name B-LCL-CDG11
Synonyms LCL-11
Accession CVCL_C0VJ
Resource Identification Initiative To cite this cell line use: B-LCL-CDG11 (RRID:CVCL_C0VJ)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: B-cell; CL=CL_0000236.
Sequence variations
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Tyr64Cys (c.191A>G); Zygosity=Heterozygous (PubMed=34420056).
  • Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (PubMed=34420056).
Disease Congenital disorder of glycosylation type Ia (NCIt: C126868)
PMM2-CDG (ORDO: Orphanet_79318)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=34420056; DOI=10.1093/glycob/cwab087
Parrado A., Rubio-Pedraza G., Serrano M., De la Morena-Barrio M.E., Ibanez-Mico S., Ruiz-Lafuente N., Schwartz-Albiez R., Esteve-Sole A., Alsina L., Corral J., Hernandez-Caselles T.
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Glycobiology 32:84-100(2022)

Cross-references
Encyclopedic resources Wikidata; Q112929246
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6