GM21884
LCL from B-Lymphocyte
Description:
RING CHROMOSOME
|
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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,r(15)(p12q26)[18]/46,XX,r(15;?)(p12q26;?)[2].arr 15q14(32514901-32643098)x1,15q26.3(97799969-100276767)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome 15: RING CHROMOSOME Aneuploid Segment (-)15pter>15q12 |
|
Chromosome 15: RING CHROMOSOME Aneuploid Segment (-)15q26>15qter |
| Remarks |
Microcephaly; cafe-au-lait spots; high arched palate; fifth-finger clinodactyly; mild speech delay; bone age exams were consistent with severe retardation of skeletal maturation; height had a -4 standard deviation score; at age 7 years IGF-I level was 34.2 mU/ml (normal range 440-3600 mU/ml); at age 7 1/2 years started on synthetic human growth hormone treatment with some success |
| 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 |
| |
| Peoples R, Milatovich A, Francke U, Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome Cytogenetics and cell genetics70:228-34 1995 |
| PubMed ID: 7789178 |
| Split Ratio |
1:5 |
| 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 |
- |
|
|