NA03091
DNA from Amniotic fluid-derived cell line
Description:
XXY SYNDROME; KLINEFELTER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Amniotic fluid
|
|
Cell Type
|
Amniotic fluid-derived cell line
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Amniotic fluid-derived cell line
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XXY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
47,XXY; see GM03102 Fibroblast |
| Tallaksen HBL, Hasselholm EB, Berletch JB, Filippova GN, Deng X, Van Dyke DL, MacDonald JW, Bammler TK, Chang S, Buskbjerg CDR, Gravholt CH, Disteche CM, Just J, Skakkebæk A, DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome Molecular psychiatry: 2025 |
| PubMed ID: 41028571 |
|
|