Cellosaurus cell line B-LCL-CDG12 (CVCL

Cross-references
Cell line name	B-LCL-CDG12
Synonyms	LCL-12
Accession	CVCL_C0VK
Resource Identification Initiative	To cite this cell line use: B-LCL-CDG12 (RRID:CVCL_C0VK)
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.Pro113Leu (c.338C>T); ClinVar=VCV000007723; Zygosity=Heterozygous (PubMed=34420056). Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Phe207Ser (c.620T>C); ClinVar=VCV000189141; 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	Female
Age at sampling	Children
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)
Encyclopedic resources	Wikidata; Q112929247
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6