Cellosaurus cell line B-LCL-CDG1 (CVCL

Cellosaurus B-LCL-CDG1 (CVCL_C0VF)

[Text version]

Cell line name

B-LCL-CDG1

Synonyms

CDG-LCL1; CDG-LCL I; LCL-1

Accession

CVCL_C0VF

Resource Identification Initiative

To cite this cell line use: B-LCL-CDG1 (RRID:CVCL_C0VF)

Comments

Population: Caucasian.
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.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (PubMed=34420056).
Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Val231Met (c.691G>A); ClinVar=VCV000007719; 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

STR profile

Source(s): CLS=302012

Markers:

Amelogenin	X
CSF1PO	10,12
D3S1358	15,18
D5S818	12,13
D7S820	10,11
D8S1179	12
D13S317	8,10
D16S539	9,11
D18S51	15,19
D21S11	31
FGA	20,22
Penta D	11,12
Penta E	10
TH01	8,9
TPOX	9,11
vWA	17,19

Publications

PubMed=9719677; DOI=10.1093/glycob/8.10.963
Bergmann M., Gross H.-J., Abdelatty F., Moller P., Jaeken J., Schwartz-Albiez R.
Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A).
Glycobiology 8:963-972(1998)

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

Cell line collections (Providers)

CLS; 302012

Encyclopedic resources

Wikidata; Q112929244

Entry history

Entry creation

23-Jun-2022

Last entry update

19-Dec-2024

Version number