Description:
TURNER SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities PIGI Consented Sample |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
ITALIAN/IRISH
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX.arr[hg19] 2q13(110856808-111084885)x3,6q26(162721794-162914277)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically unaffected; mother of GM23900 (proband with Turner Syndrome). |
|
|