GM23943 PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23943 PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME B-Lymphocyte Cell Line
普瑞德威利综合症；公共服务系统 |易位染色体细胞株
Description描述：Clinically affected with Prader-Willi syndrome due to an unbalanced translocation involving 10p and 15q; diagnosed at 1 week of age; symptom onset at birth; in NICU for first 2 months due to feeding difficulty; gastrostomy tube; early onset kyphoscoliosis; truncal hypotonia; epicanthus inversus; saliva mildly thick; right occipital plagiocephaly;heterotopia;seizures;developmental delay: sat at 12 months, crawled at 15 months, pulled to stand at 18 months, walked with support at 19 months, first words at 15 months; some tantrums; no significant preoccupation with food, exhibits satiety; karyotype result: 45,XX,der(10)t(10;15)(p15;q13); FISH result: ish del(15)(q11.2q11.2)(SNRPN-); treatments include: body cast for treatment of kyphoscoliosis; growth hormone (Tevtropin); Keppra; insulin; diazepam; early intervention, physical, occupational, and speech therapy.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23943
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: Asian, Other
Age年龄:2 YR
Gender性别:Female
Cell Type细胞类型: PRADER-WILLI SYNDROME; PWS | TRANSLOCATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:Japanese, German, Irish
Family:
Relationship:proband
Karyotype:45,XX,der(10)t(10;15)(p15;q13),-15.ish der(10)t(10;15)(p15;q13)(D10S2488+,10QTEL24+).arr 15q11.1q13.2(20016315-30386399)x1,15q14(34723419-34830932)x1
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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