GM08681
LCL from B-Lymphocyte
Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
47,XY,+i(18)(pter>p10:p10>pter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18p10 |
|
Chromosome 18: ISOCHROMOSOME Aneuploid Segment (+)18pter>18p10 |
|
Chromosome 18: MARKER CHROMOSOME Aneuploid Segment (+)18pter>18p10 |
Remarks |
Developmental delay, tracheomalacia, minor anomalies including scaphocephaly, narrow bifrontal diameter with decreased lateral scalp hair frontally, posteriorly rotated auricles, variant palmar crease patterns on hands, & hypertonia |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|