GM20212兰格间质发育不良 |身材矮小同源盒； SHOX B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20212 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 35.2 years: height = 122.1 cm, height SD score = -6.8, upper to lower segment ratio = 2.1, upper to lower segment z-score = 38.7, arm span = 96.3 cm, arm span z-score = -8.7, right tibial length z-score = -7.8, right radial length z-score = -7.4, fourth metacarpal z-score = -1.7; menarche at age 11; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; parents had classic Leri-Weill dyschondrosteosis; sibling, GM20213, affected with Langer mesomelic dysplasia; subject has daughter with Leri-Weill dyschondrosteosis and hypochondroplasia and a son with Leri-Weill dyschondrosteosis; donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. 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®-GM20212
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:35 YR
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:2463
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
http://www.biovector.net