Name細胞名稱：NTCC? GM24696 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line
普瑞德威利綜合癥；普沃斯細胞株
Description描述：Clinically affected; symptom onset at birth; diagnosed at 3 days old; fetal distress, delivered via Caesarean section due to decreased fetal motion and decreased oxygen; significant hypotonia - unable to walk; seizures; slight plagiocephaly; scoliosis; kyphosis; clinodactyly; short 4th metacarpal and 5th finger; dilated cardiomyopathy at age 2-3 years (resolved at age 3 years); obstructive sleep apnea; asthma; bruxism; hypoplastic scrotum; failure to thrive; speech delay; pervasive developmental delay; morbid obesity -height for age: 108 cm,~28th percentile, weight for age: 18.8 kg, ~46th percentile; BMI: 16 kg/m2,~71st percentile; Prader-Willi-positive deletion confirmed by FISH and methylation studies; medications include: Genotropin, albuterol, Keppra; assistive devices or therapy include: brace for scoliosis; walker; wheelchair; use of bipap machine at night; speech therapy; physical therapy; has behavior modification program; hospitalizations for failure to thrive, tracheomalachia and seizures; surgeries: bilateral orchiopexy (for undescended testes), tonsillectomy.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24696
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:5 YR
Gender性別:Male
Cell Type細胞類型: PRADER-WILLI SYNDROME; PWS
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:Mexican
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19] 15q11.2q13.1(23459189-28709280)x1
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net