GM25262
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities PIGI Consented Sample |
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
|
Ethnicity
|
Basque, Italian, Czech
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
ISCN
|
46,XY.arr[hg19]15q11.1q13.1(20216942-28709280)x1
|
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 4; symptom onset at birth; decreased fetal movement; born at 37 weeks by C-section for placenta previa; birth weight: 3 pounds 2 ounces; birth length 20 inches; failure to thrive for approximately 1 year; tube fed for first 3 months of life; hypotonic and very weak cry at birth; physical exam at 36 years of age: almond shaped eyes; left eye strabismus; visual impairment; bitemporal narrowing; mildly flat occiput; micrognathia; hypopigmentation of hair; neck is broad and short; prominent gynecomastia; penile length 6 cm, <10th percentile (Tanner stage IV); hypoplastic scrotum; mild scoliosis; osteopenia/osteoporosis; prone to sleep apnea; short 4th metacarpal; hemihypertrophy of the left leg; height is 162.6 cm, 3rd percentile; weight is 101.3 kg, 97th percentile; head circumference is 54.9cm, 40th percentile; BMI is 38.3, greater than 97th percentile; chest circumference 123 cm, >97th percentile; weight gain started at 2.5- 3 years of age, at age 36 Prader Willi phase 3: hyperphagia, always hungry, never feels full, food seeking/hiding; learning disabilities; severe behavioral problems; emotional disturbances; anxiety; obsessive compulsive disorder; nail picking; skin picking until skin bleeds; higher than average pain threshold; speech delay; pervasive developmental delay (sat at 1 year; walked at 3 years); autism; donor subject is positive for PWS 15q11 deletion on FISH; medications/supplements: Risperdal from age 19-35 years, Seroquel, Citracal, vitamin E and multivitamin; surgeries: orchiopexy at age 4 years and strabismus correction; therapies: physical therapy (2 years), speech, and language therapy. |
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 |
- |
|
|