GM20742史密斯-马吉尼斯综合症；短信 |视黄酸诱导基因1； RAI1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20742 SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1 B-Lymphocyte Cell Line
史密斯-马吉尼斯综合症；短信 |视黄酸诱导基因1； RAI1细胞株
Description描述：Clinically affected; brachycephaly; prognathism; tented upper lip; broad square face; hoarse deep voice; mental retardation; speech delay; sleep disturbance; self hugging; onychotillomania; polyembolokoilomania; head banging/face slapping; hand biting; attention seeking; myopia; strabismus; synophrys; scoliosis; no deletion detected in cell line by FISH analysis; donor subject has a 29 bp deletion at nucleotide 2773 of the RAI1 gene (2773del29)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20742
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: White
Age年龄:29 YR
Gender性别:Male
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Affected State:Yes
Product:LCL
Gene:RAI1
Mutations突变:2773del29
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY.ish 17p11.2(LIS1x2),17p13.3(FLIx2)
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
Tel电话：400-800-2947
Email：Biovector@163.com
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