NA00343
DNA from Fibroblast
Description:
WOLF-HIRSCHHORN SYNDROME; WHS
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,del(4)(p15.2)[18]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.98 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p14 |
| Remarks |
46,XY,del(4)(qter>p14:) |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
| |
| 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 2022 |
| PubMed ID: 35039224 |
| |
| 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 |
| |
| Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Faryniarz AG, Gibbons K, Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf- Hirschhorn syndrome. Nature318:75-8 1985 |
| PubMed ID: 2997623 |
| |
| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
|