GM18180 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM18180 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME B-Lymphocyte Cell Line
SHPRINTZEN-GOLDBERG 颅缝早闭综合征细胞株
Description描述：Clinically affected; birth weight 3.64 kg; anterior fontanelle at birth was widely patent with inner table remodeling; malrotation of the intestines; aberrant right subclavian artery; CT scan of head showed relative hypoplasia of mandible, fusion of the left lambdoidal suture, and subluxation of C1-2 due to missing posterior arch of C1; MRI of spine and brain revealed Chiari-1 malformation with prominence of the ventricles, thinning of the corpus callosum, and brachycephaly due to fusion of the left lambdoidal suture; moderate retardation; can produce a small number of 2 word combinations (at age 4 years 11 months); ambulatory; downward slanting palpebral fissures; open-mouth stance; left posterior plagiocephaly; underbite; flat nasal bridge; forehead is broad and flat; low-set and dysplastic pinna; thickened helices; prominent venous pattern over nasal bridge; high, arched palate; extremities are arachnodactylous without contractures; marfanoid habitus; small joints are lax; echocardiogram showed dilated aortic arch; died at age 5 following complications after intestinal obstruction and bowel rupture; normal female karyotype; see Patient 2 in publication by Shanske, et al (PMID: 22639450);affected maternal half-brother is GM13441.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM18180
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: Hispanic/Latino
Age年龄:3 YR
Gender性别:Female
Cell Type细胞类型: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:3003
Relationship:half-sister
Karyotype:
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
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