GM07947
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
DYSTROPHIN; DMD
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies
dbGaP |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,Y,del(X)(pter>p21.3::p21.1>qter)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
5'END-EX19DEL |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp21>Xp21 |
| Remarks |
Clinically affected with DMD, as well as chronic granulomatous disease, retinitis pigmentosa, and mental retardation; hepatosplenomegaly and lymphadenopathy noted at six months; recurrent pyoderma; respiratory infections; febrile episodes; recurrent suppurative lymphadenitis, osteomyelitis, and pneumonia; McLeod red cell phenotype; diffuse atrophy of retinal pigment epithelium and intraretinal pigment clumpng at age 2; retinal vessel attenuation; visual acuity 20/100 OD and 20/40+ OS; atrophy of macula with cystoid macular edema and drusen of the disc; severely constricted visual fields; ERG showed no detectable rod or cone responses; idiopathic intestinal pseudoobstruction; stood with support at age 2; walked short distances at 3 1/2 years; wide-based gait; weakness of proximal and distal muscles of upper and lower extremities; wheelchair bound at age 12; pseudohypertrophy of calf muscles; EMG consistent with a myopathy; muscle biopsy showed diffuse loss of muscle fibers and replacement by fibrous and adipose tissue and marked variation in fiber size on cross sections; elevated CPK of 1,039; 46, Y,del(X)(Xpter>Xp21.3::Xp21.1>Xqter) by molecular analysis; dystrophin gene deletion from outside 5' end through at least exon 19, exon 44 is not deleted. |
| 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 |
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| Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG, Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet36(4):411-6 2004 |
| PubMed ID: 15004558 |
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| Oaks MK, Hanson JP Jr, O'Malley DP, Molecular cytogenetic mapping of the human melanoma antigen (MAGE) gene family to chromosome region Xq27-qter: implications for MAGE immunotherapy. Cancer Res54:1627-9 1994 |
| PubMed ID: 8137270 |
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| Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM, Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics11:263-72 1991 |
| PubMed ID: 1769646 |
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| Wilcox DE, Cooke A, Colgan J, Boyd E, Aitken DA, Sinclair L, Glasgow L, Stephenson JB, Ferguson-Smith MA, Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum Genet73:175-80 1986 |
| PubMed ID: 3721503 |
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| de Martinville B, Kunkel LM, Bruns G, Morle F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, et al, Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet37:235-49 1985 |
| PubMed ID: 2984924 |
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| Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al, Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet37:250-67 1985 |
| PubMed ID: 4039107 |
| dbSNP |
dbSNP ID: 11072 |
| Gene Cards |
DMD |
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XK |
| Gene Ontology |
GO:0003779 actin binding |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005215 transporter activity |
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GO:0005509 calcium ion binding |
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GO:0005856 cytoskeleton |
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GO:0006810 transport |
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GO:0006865 amino acid transport |
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GO:0006936 muscle contraction |
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GO:0007016 cytoskeletal anchoring |
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GO:0007517 muscle development |
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GO:0008270 zinc ion binding |
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GO:0015171 amino acid transporter activity |
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GO:0016010 dystrophin-associated glycoprotein complex |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:1756 |
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Gene ID:7504 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
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306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| OMIM |
300377 DYSTROPHIN; DMD |
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306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
| Split Ratio |
1:2 |
| 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 |
- |
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