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 |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,del(4)(p15.2)[8]/46,XY,del(4)(p15.2),dup(7)(q32q21)[2].arr 4p16.3p15.2(1618261-25512740)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| 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 |
| |
| Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020 |
| PubMed ID: 32845907 |
| |
| Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, McCoy RC, Barnes FL, Zouves CG, Viotti M, One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies Fertility and sterility111:280-293 2018 |
| PubMed ID: 30691630 |
| |
| 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 |
| |
| 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 |
| |
| Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982 |
| PubMed ID: 6350155 |
| |
| Breg WR, Aronson MM, Greene AE, Coriell LL, Deletion of the short arm of chromosome 4 from a subject with Wolf's syndrome. Repository identification no. GM-72. Cytogenet Cell Genet18:307-8 1977 |
| PubMed ID: 560288 |
| |
| Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976 |
| PubMed ID: 182912 |
| |
| Tan YH, Chou EL, Lundh N, Regulation of chromosome 21-directed anti-viral gene(s) as a consequence of age. Nature257:310-2 1975 |
| PubMed ID: 1161032 |
| Passage Frozen |
15 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|