Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
|
White
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,der(4)(t1;4)(q24.2;q34.3)mat.arr 1q24.2q44(165703505-247190999)x3,4q34.3q35.2(180883736-191254119)x1
|
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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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 |
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Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+)1q25>1qter |
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Chromosome 1: DERIVATIVE CHROMOSOME Trisomic Segment 1q25>1qter |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4q35>4qter |
Remarks |
Absent thumbs, heart anomalies, and other malformations; culture established from a muscle biopsy; passage 4 at CCR |
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
PubMed ID: 35039224 |
|
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 |
|
Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
PubMed ID: 16124865 |
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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