GM23813染色体 15Q11-Q13 重复综合征 |重复染色体 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23813 CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME B-Lymphocyte Cell Line
染色体 15Q11-Q13 重复综合症 |重复染色体细胞株
Description描述：Clinically affected; diagnosed at 5 months of age; cortical visual impairment; high astigmatism; exotropia; cleft lip and palate with repair; camptodactyly of the third and fifth fingers; broad epicanthal folds; low, flattened nasal bridge; small muscular ventricular septal defect and small atrial septal defect, both closed by 6 months of age; mild conductive hearing loss; developmental delay; hypotonia; craniosynostosis with cranial vault remodeling; some facial asymmetry-decreased movement on the left; seizure disorder; sits with moderate support, rolls from back to left side, reflux, frequent hiccups, sleep disruption;MRI of Brain without IVC showed mild-moderate ventriculomegaly, primarily involving the lateral and third ventricles. Bilateral middle cranial fossa arachnoid cysts, left greater than right; uses braces, orthotics and wheelchair; uses Bipap to treat sleep apnea; wears glasses and has intermittent strabismus; antiseizure medication and lactogenic diet; arr CGH result: 15q11.2 (RP11-385H1->RP1114I12)x3
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23813
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:4 YR
Gender性别:Male
Cell Type细胞类型: CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:SOUTH AMERICAN/SPANISH/GERMAN
Family:
Relationship:proband
Karyotype:46,XY.arr 15q11.2q13.1(21192942-26752944)x3
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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