Description:
PITT-HOPKINS SYNDROME; PTHS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
ISCN
|
46,XY,del(18)(q21.2q21.3)[21].arr[hg19] 18q21.2q21.32(51,267,084-56,851,176)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.39 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; short stature; wide mouth; large nose; single palmar crease; small hands/feet; ataxic gait; walked at 2 years old; only speaks 2 words, but receptive language is much better; developmental delays; autism spectrum disorder; ADHD; strabismus; weakness; hypotonia; eczema; regular constipation problems; microarray revealed that subject has a 5.5Mb interstitial deletion of 18q with breakpoints between 49.5Mb and 55.0Mb which affects the region between bands 18q21.2 and 18q21.32; therapies: physical, occupational, and speech; medications: prozac, amantadine, and zyrtec; surgeries: cryptorchidism repair, salivary duct relocation; see B-lymphocyte GM26090. |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|