GM07773
LCL from B-Lymphocyte
Description:
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
X Chromosome Markers |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,X,del(X)(p21.3p11.4).arr Xp21.3p11.4(26898093-39107755)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp21>Xp21 |
| Remarks |
Mild mental retardation; normal gonad development; patient has partial OTC deficiency and heterozygosity for chronic granulomatous disease; lymphocytes and fibroblasts show random X inactivation; in lymphoid culture, del(X) is late replicating; same subject as GM07323 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Wang TS, Pearson BE, Suomalainen HA, Mohandas T, Shapiro LJ, Schroder J, Korn D, Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A82:5270-4 1985 |
| PubMed ID: 2410918 |
| |
| Francke U, Random X inactivation resulting in mosaic nullisomy of region Xp21.1---- p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet38:298-307 1984 |
| PubMed ID: 6510024 |
| |
| Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U, Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science226:698-700 1984 |
| PubMed ID: 6494904 |
| dbSNP |
dbSNP ID: 11043 |
| Gene Cards |
XK |
| Gene Ontology |
GO:0005215 transporter activity |
|
GO:0006810 transport |
|
GO:0006865 amino acid transport |
|
GO:0015171 amino acid transporter activity |
|
GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:7504 |
| NCBI GTR |
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
|
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| OMIM |
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
|
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| Omim Description |
CYTOCHROME-b-NEGATIVE GRANULOMATOUS DISEASE, X-LINKEDCYTOCHROME b-245, BETA POLYPEPTIDE, INCLUDED; CYBB, INCLUDED |
| |
GRANULOMATOUS DISEASE, CHRONIC; CGD |
| |
KELL BLOOD GROUP PRECURSOR SUBSTANCE; KxMCLEOD SYNDROME, INCLUDED |
| |
MCLEOD PHENOTYPE, INCLUDED |
| |
Xk LOCUS |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|