GM20217 LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20217 LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX B-Lymphocyte Cell Line
兰格间质发育不良 |身材矮小同源盒； SHOX细胞株
Description描述：Clinically affected; anthropometric measurements at age 50 years: height = 146.7 cm, weight = 117 lbs, head circumference = 57.8 cm; curvature of forearms noted at birth; increased carrying angle; Madelung's wrist deformity; hydrocele repair; bilateral osteotomies on femurs and derotation of hips for treatment of in toeing during childhood; attention-deficit disorder diagnosed in adulthood; acid reflux; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a deletion of DXYS233. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20217
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:50 YR
Gender性别:Male
Cell Type细胞类型: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Affected State:Yes
Product:LCL
Gene:SHOX
Mutations突变:DEL del DXYS233
Ethnicity:
Family:
Relationship:proband
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
NTCC典型培养物保藏中心
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