NA00959
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
maternal third cousin
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,der(12)t(11;12)(q13;p13),der(17)t(10;17)(q24;p13)mat[16]/46,XY,der(17)t(10;17)(q24;p13)mat[8]/47,XY,+7,der(17)t(10;17)(q24;p13)mat[1].arr 10q24.2q26.3(100429248-135356682)x3,11q13.3q25(69301994-131112561)x2~3,12p13.1(31468-1154130)x1~2,17p13.3(513-1869520)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
9 |
| |
| 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 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q24>10qter |
|
Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q24>10qter |
|
Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (-)12pter>12p13 |
|
Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Multiple congenital anomalies; growth and mental retardation; increased soluble glutamic oxaloacetic transaminase activity |
| 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 |
| |
| Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):1143-9 1982 |
| PubMed ID: 23665875 |
| |
| Spritz RA, Emanuel BS, Chern CJ, Mellman WJ, Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet23:149-56 1979 |
| PubMed ID: 436447 |
| |
| Zackai EH, Moreno-Fuenmayer H, Mellman WJ, Aronson MM, Greene AE, Coriell LL, A (10;17) translocation, 46 chromosomes. Repository identification No. GM-959. Cytogenet Cell Genet17:302-3 1976 |
| PubMed ID: 1017324 |
|
|