GM23722
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities DGAP |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XX,t(17;18)(p13;p11.2).arr 17p13.3(794263-1229753)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Rett syndrome-like phenotype with moderate to severe mental retardation; combined motor and language delay; non-verbal; sleep disturbance; constant hand-wringing or hands in mouth; significant underbite; very hypermobile joints; question of gastrointestinal abnormality; abnormal EEG (X2) with left central temporal spike waves and occasional right central temporal spike waves. |
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 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Supplement |
- |
|