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Cellosaurus B-LCL-CDG4 (CVCL_A9Y2)

[Text version]
Cell line name B-LCL-CDG4
Accession CVCL_A9Y2
Resource Identification Initiative To cite this cell line use: B-LCL-CDG4 (RRID:CVCL_A9Y2)
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:10702; SEC23B; Unexplicit; Not described; Zygosity=Homozygous (CLS=302015).
HLA typing Source: CLS=302015
Class I
HLA-AA*01:01:01,24:02:01
HLA-BB*08:01:01,18:01:01
HLA-CC*07:01:01,12:03:01
Class II
HLA-DPDPB1*03:01:01,04:02:01
HLA-DQDQA1*01:02:01,05:01:01
DQB1*02:01:01,06:02:01
HLA-DRDRB1*03:01:01,15:01:01
Disease Congenital dyserythropoietic anemia type II (NCIt: C175991)
Congenital dyserythropoietic anemia type II (ORDO: Orphanet_98873)
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=302015

Markers:
AmelogeninX
CSF1PO11,12
D3S135816,17
D5S81811
D7S8208,14
D8S117913
D13S3178,13
D16S53911,12
D18S5114,16
D21S1130
FGA23,23.2
Penta D8,12
Penta E7,19
TH016,9
TPOX8
vWA16

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Cross-references
Cell line collections (Providers) CLS; 302015
Encyclopedic resources Wikidata; Q102113580
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number9