Name細(xì)胞名稱：NTCC? GM23832 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line
普瑞德威利綜合癥；普沃斯細(xì)胞株
Description描述：Affected; mother had gestational diabetes which was well controlled; subject required intubation from birth until day of life 4; supplemental feeding by NG tube; mild micrognathia; anteverted tip of the nose; high-arched palate; short and broad neck; low anterior and posterior hairline; generalized mild hypotonia; short stature; bilateral astigmatism; strabismus; early onset morbid obesity, primarily abdominal fat distribution; mildly hypoplastic labia minora; tapered fingers; short 4th and 5th metacarpals; mild scoliosis; obstructive sleep apnea; staring episodes, but no seizures; microsatellite testing revealed maternal uniparental disomy of chromosome 15; normal head ultrasound; normal echo; borderline prolonged QT segment on EKG; head MRI showed delayed myelination pattern; swallow study revealed silent aspiration in supine position only; development assessment using Bayley Scale of Infant Development at approximately 12 months revealed cognitive score:65 (low), language (74) borderline, motor (61) low, social-emotional (60) low, general adaptive (53), low; treatments include occupational therapy, physical therapy and growth hormone. _x000D_
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM23832
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:1 YR
Gender性別:Female
Cell Type細(xì)胞類型: PRADER-WILLI SYNDROME; PWS
Affected State:
Product:LCL
Gene:SNRPN
Mutations突變:DEL MATERNAL EXON ALPHA
Ethnicity:MEXICAN
Family:
Relationship:proband
Karyotype:46,XX,1qh+[50].arr 22q11.21(18876415-19006984)x3
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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