GM05523
LCL from B-Lymphocyte
Description:
FRAGILE SITE 10Q25
MARKER CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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White
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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,XX,fra(10)(q25) 39% of cells show fra(10) with BrdU & FudR
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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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| Remarks |
46,XX,fra(10)(q25) in 39% of cells with FudR & BrdU; see GM05425B Fibroblast; short stature, late menarche, irregular menses, small uterus, small ovaries, aortic insufficiency, myopia, & cataracts |
| Gollin SM, Bock HG, Caskey CT, Ledbetter DH, A new family with fra(10)(q25): spontaneous expression and 100% expression with 100 microM BrdU. Am J Med Genet21:643-8 1985 |
| PubMed ID: 4025395 |
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| Gollin SM, Holmquist GP, Ledbetter DH, Fra(10)(q25): the BrdU effect is substitution-dependent. Am J Hum Genet37:208-14 1985 |
| PubMed ID: 3976659 |
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| Ledbetter, Cytogenetic studies of a BrdU-sensitive but not BrdU-dependent fra(10)(q25) in a patient with multiple anomalies. Am J Hum Genet34:132A (1982):208-14 1982 |
| PubMed ID: 3976659 |
| 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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