NA10374
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XX,t(13;15)(q21.3;q13),+der(15)t(13;15)(q21.3;q13)pat.arr 13q21.32q34(66996489-114126487)x3,15q11.1q11.2(18276328-22055238)x3,15q11.2(22063115-22284321)x0,15q11.2q12(22288358-25678973)x3,22q11.21(17256415-17386984)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| 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 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13q22>13qter |
|
Chromosome 13: TRANSLOCATION Breakpoint 13q22 |
|
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (+)15pter>15q14 |
|
Chromosome 15: TRANSLOCATION Breakpoint 15q14 |
| Remarks |
Bilateral colobomas irides; high, arched palate; dysplastic pinna; large capillary hemangioma of forehead; VSD; postaxial hexadactyly of hands; hydronephrosis; apnea |
| 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 |
|
|