Description:
RECOMBINANT 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,XX,rec(1)dup(q)ins(1)(pter>p22::q32>q31::p22>qter)pat
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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 |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: DUPLICATION Aneuploid Segment (+)1q31>1q32 |
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Chromosome 1: DUPLICATION Trisomic Segment 1q31>1q32 |
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Chromosome 1: INSERTION Aneuploid Segment (+)1q31>1q32 |
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Chromosome 1: INSERTION Trisomic Segment 1q31>1q32 |
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Chromosome 1: RECOMBINANT Aneuploid Segment (+)1q31>1q32 |
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Chromosome 1: RECOMBINANT Trisomic Segment 1q31>1q32 |
| Remarks |
Partial trisomy 1 with multiple congenital malformations (high arched palate, hypertelorism, shield chest, earlobe anomalies, craniosynostosis, ventricular septal defect) |
| Palmer CG, Christian JC, Merritt AD, Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus. Am J Hum Genet29:371-7 1977 |
| PubMed ID: 879169 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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