NTCC® NA20212 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20212

Name：NTCC® NA20212 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20212
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 35 YR
Gender性别: Female
Description描述: LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SHOX
Disease疾病类型:
Mutations突变: DEL
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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