GM07158
LCL from B-Lymphocyte
Description:
FUMARATE HYDRATASE; FH
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
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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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Other
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Family Member
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1
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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,XY,der(2)t(1;2)(q32.2;q37)mat.arr 1q32.2q44(206698478-247190999)x3,2q37.3(239367123-242738117)x1
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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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| fumarate hydratase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 4.2.1.2 |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+)1q32>1qter |
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Chromosome 1: DERIVATIVE CHROMOSOME Trisomic Segment 1q32>1qter |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (-)2q37>2qter |
| Remarks |
Severely retarded & dysmorphic; Fumarate hydratase activity consistent with trisomy for 1q; 46,XY,-2,+der(2),t(1;2) (2pter>2q37::1q32.1>1qter)mat; unbalanced |
| 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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| Barr FG, Holick J, Nycum L, Biegel JA, Emanuel BS, Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics13:1150-6 1992 |
| PubMed ID: 1505949 |
| Split Ratio |
1:5 |
| 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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