GM23830
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
ISODICENTRIC CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
|
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
|
|
Ethnicity
|
GERMAN
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
47,XX,+idic(15)(q13.1)[7]/46,XX[3].arr 15q11.1q13.1(18276328-26752944)x4
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; diagnosed at age 2 years; low muscle tone; heart murmur, VSD; slightly enlarged heart; tip toe walking; global developmental delay; no speech; slight epicanthal fold on right eye; prominent, simple ears with poorly formed antihelices; Tanner stage I; pes planus; mildly decreased tone; sat at 10 months; crawled at 12 months; walked at 23 months; Bayley scales of infant and toddler development: 58 motor performance, 65 for communication skills, and 75 for cognitive development; wears ankle braces some of the time; physical therapy; CGH result: 47, XX, +psu idic (15) (SNRPN++) .nuc ish (SNRPNx4) .arr 15q11.1q13.1 (18, 362,555-26, 208, 646, B18)x4. |
| 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 |
1:3 |
| 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 |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|