GM20218 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® GM20218 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 8 months: height = 57.5 cm, weight = 5.88 kg, head circumference = 45.2 cm; birth length 17 3/4 inches; developmentally normal at 8 months of age; severe shortening of forearms with ulnar deviation; decreased extension of the third and fourth fingers of each hand; mild tibial bowing; unusual foreshortening of the forearms and lower legs; mild micrognathia; elevated 17-hydroxyprogesterone on newborn screen; diagnosis of non-classic 21-hydroxylase deficiency made in newborn period; no ambiguous genitalia; donor subject is homozygous for a deletion of the SHOX allele. 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®-GM20218
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:8 MO
Gender性别:Female
Cell Type细胞类型: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Affected State:Yes
Product:LCL
Gene:SHOX
Mutations突变:DEL
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
Tel电话：400-800-2947
Email：Biovector@163.com
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