GM09868
LCL from B-Lymphocyte
Description:
INVERTED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
|
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
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,der(21)dup(21p)inv(21)(p13q22.1).arr 21q22.12q22.3(35675537-46921373)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 21: INVERSION Aneuploid Segment (+)21pter>21p13 |
|
Chromosome 21: INVERSION Trisomic Segment 21pter>21p13 |
|
Chromosome 21: RECOMBINANT Aneuploid Segment (+)21pter>21p13 |
|
Chromosome 21: RECOMBINANT Trisomic Segment 21pter>21p13 |
| Remarks |
Develop delay; feeding difficulties; inc tone; prom nasal bridge; lrg nose/blunt tip; downslanting eyes; low-set, posteriorly rotated ears; incr facial hair; pectus deformity of chest; slight kyphosis; brisk DTRS & occasional clonus |
| 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 |
| |
| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
| Split Ratio |
1:2 |
| 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 |
- |
|
|