Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,+der(9)(9pter>9q21.2:: 13q12.1>13qter)mat,-13
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (-)13pter>13q12 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q21 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9q21 |
Remarks |
Result of Adj-2 segregation; see also GM01388 Lymphoid; profoundly retarded; clinical features of trisomy 9p syndrome |
Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
PubMed ID: 6093508 |
|
Howard-Peebles PN, Yarbrough KM, Stoddard GR, Rary JM, Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12). Clin Genet11:46-52 1977 |
PubMed ID: 830449 |
Passage Frozen |
4 |
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 |
- |
|
|