Description:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Ethnicity
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JEWISH
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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45,XX,-3[2]/47,XX,+7[4]/47,XX,+8[2]/ 47,XX,+14[2]//45,XX,-17[2]/45,XX,-22[2]/ 46,XX[88]
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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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| Passage Frozen |
7 |
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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 |
| |
| Cytogenetics |
Chromosome 14: ANEUPLOID Trisomic Segment 14pter>14qter |
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Chromosome 7: ANEUPLOID Trisomic Segment 7pter>7qter |
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Chromosome 8: ANEUPLOID Trisomic Segment 8pter>8qter |
| Remarks |
Severe microcephaly and developmental delay |
| Passage Frozen |
7 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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