GM25294
LCL from B-Lymphocyte
Description:
TURNER SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample |
|
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
|
Peruvian, German, Irish
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,X,del(X)(p11.2).arr[hg19]Xp22.33p11.21(168464-55476637)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; diagnosed in utero; mother of advanced maternal age; high arched palate; slightly low-set ears; slight upturned fingernails; short stature; psoriasis; gross motor delay; verbally gifted; cytogenetic analysis in utero on amniocytes and at 1 month of age (peripheral blood) both revealed abnormal G-banded karyotype and FISH, showing terminal deletion of short arm of one X chromosome; both parents (not in repository) have normal karyotypes as determined by GTW banding analysis, therefore the Xp deletion in the child appears to be de novo in origin. |
| 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 |
- |
|
|