Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Alternate IDs |
GM17352 [TRANSLOCATED CHROMOSOME] |
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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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Black/African American
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Ethnicity
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CUBAN
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,der(1)t(1;2)(p36;q32)pat.arr 1p36.33(51585-218557)x1,2q32.3q37.3(192559365-242738117)x3,6p22.3(17757812-18029601)x3
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (-)1pter>1p36 |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (+)2q31>2qter |
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Chromosome 2: DERIVATIVE CHROMOSOME Trisomic Segment 2q31>2qter |
| Remarks |
Multiple congenital anomalies and mental retardation |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| Passage Frozen |
3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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