GM11955
LCL from B-Lymphocyte
Description:
18Q- SYNDROME
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(18)(q21.3).arr 18q21.33q23(57314812-76116029)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 18: DELETION Aneuploid Segment (-)18q21>18qter |
Remarks |
18q- syndrome; mental retardation; abnormal hands; midface hypoplasia; carpmouth; first-arch abnormalities; abnormal feet; visceral anomalies; VSD; 19 Mb deletion; clinically normal mother is GM11968 Lymphoid |
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 |
|
Hui SM, Trask B, van den Engh G, Bartuski AJ, Smith A, Flint A, Lalande M, Silverman GA, Analysis of randomly amplified flow-sorted chromosomes using the polymerase chain reaction. Genomics26:364-71 1995 |
PubMed ID: 7601463 |
|
Silverman GA, Schneider SS, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, van den Engh G, Trask BJ, The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet56:926-37 1995 |
PubMed ID: 7717403 |
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 |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|