GM21077
LCL from B-Lymphocyte
Description:
INVERTED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities DGAP dbGaP |
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
|
ISCN
|
47,XX,inv(2)(p23q31.1),+14[7]/46,XX,inv(2)(p23q31.1)[18].arr 14q11.1q32.33(18072111-106247258)x2˜3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Cytogenetics |
Chromosome 2: INVERSION Breakpoint 2p23 |
|
Chromosome 2: INVERSION Breakpoint 2q31.1 |
Remarks |
Developmental delay; motor problems; spasticity; PDD-NOS; apparent regression |
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 |
Cumulative PDL at Freeze |
2 |
Split Ratio |
1:3 |
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 |
Supplement |
- |
|