Description:
RING CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,r(12)(p13.3q24.33)[18]/46,XY,inv(12)(p11.2q24.33)[13]/45,X[9]/45,XY,-12[2]/46,XY[8]
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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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| PDL at Freeze |
7.52 |
| Passage Frozen |
16 |
| |
| 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 |
| |
| Remarks |
Pre- & post-natal growth deficiency; natal teeth; microcephaly; mild hemiatrophy, pectus excavatum, glandular hypospadias, & clinodactyly; multiple hyperpigmented macules; severe hypothyroidism; low IQ; unstable, 46% r(12) at P10 |
| Passage Frozen |
16 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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