GM21885
LCL from B-Lymphocyte
Description:
RING CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Unspecified
|
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,XY,r(15)(p12q26)[7]/46,XY[3].arr 15q11.2(18655530-19183918)x3,15q15.3q21.1(41861695-44563035)x1,15q21.3(51152144-51352919)x1,15q26.3(96333144-100276767)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 (-)15q26>15qter |
|
Chromosome 15: RING CHROMOSOME Aneuploid Segment (-)15qter>15p12 |
Remarks |
Microcephaly; triangular facies; micrognathia; fifth-finger clinodactyly; leg-length discrepancy; developmental delay; history of dislocated hip repair, club feet repair and orchiopexy; height had a -4 standard deviation score; bone age at 19 months of age was less than 6 months |
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 |
1:4 |
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 |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|