GM24352
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,XY.arr[hg19] 15q11.1q14(20071672-39159831)x2 hmz,15q23q26.2(71844710-95806702)x2 hmz
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; diagnosed at age 1 month; symptom onset at birth; decreased fetal motion; spontaneous delivery at 36 weeks gestation; hypotonia; poor feeding and suck at birth; birth weight:2587 g (25%), length: 51 cms (10-25%), head circumference: 32 cms (10-25%); exam at 8.5 months of age: mild plagiocephaly; mild facial asymmetry; small anterior fontanelle; thin, pale skin and hair; blue eyes; upslanting palpebral fissures; small anteverted nares; small mouth with downturned corners; small low-set nipples; adiposity in abdomen and thighs; small hands with faint creases; straight calves and loss of ankle definition; small, puffy, edematous feet; small scrotum; bilateral cryptorchidism; hydronephrosis; hyperlaxity; decreased reflexes; sleep apnea; failure to thrive; developmental delay; rolled over at 7.5 months; fine motor delay; gross motor delay; methylation test for PWS positive; molecular analysis of chromosome 15 polymorphic DNA markers revealed only maternal alleles in the proband consistent with maternal uniparental disomy (UPD); array CGH revealed an additional maternally inherited microdeletion at 13q12.13 spanning approximately 111 kilobases; the deleted interval is contained within the ATP8A2 gene where it overlaps at least 3 exons (OMIM #605870); treatments: growth hormone (starting at age 1), G-tube- age 1 month-5 months; therapies: physical therapy; apnea monitor. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|