Description:
XXY SYNDROME; KLINEFELTER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
47,XXY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
See GM03091 Amniotic; Klinefelter's syndrome |
| Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL, Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study Prenatal diagnosis44:304-316 2024 |
| PubMed ID: 38411249 |
| |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| Fiacco E, Alowaysi M, Astro V, Adamo A, Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G) Stem cell research50:102119 2020 |
| PubMed ID: 33333453 |
| |
| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11:102119 2020 |
| PubMed ID: 32610655 |
| |
| Laskowski AI, Neems DS, Laster K, Strojny-Okyere C, Rice EL, Konieczna IM, Voss JH, Mathew JM, Leventhal JR, Ramsey-Goldman R, Smith ED, Kosak ST, Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus Scientific reports9:8011 2018 |
| PubMed ID: 31142749 |
| |
| Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG, Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization Prenatal diagnosis26:333-9 2006 |
| PubMed ID: 16491513 |
| |
| Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004 |
| PubMed ID: 15591276 |
| |
| Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991 |
| PubMed ID: 1678507 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|