Description:
FRAGILE SITE 10Q25
MARKER CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,fra(10)(q25) fra(10)(q25) in 12% of cells at p17
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
20 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and Chromosome Analysis |
| |
| Remarks |
See GM05523B Lymphoid; fra(10)(q25) observed in 12% of cells at P17; 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 |
| |
| 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):643-8 1982 |
| PubMed ID: 4025395 |
| Passage Frozen |
20 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|