GM20216 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® GM20216 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 7.3 years: height = 93.5 cm, height SD score = -5.5, upper to lower segment ratio = 1.8, upper to lower segment z-score = 14.8, arm span = 72.0 cm, arm span z-score = -8.5, right tibial length z-score = -2.5, right radial length z-score = -6.5, fourth metacarpal z-score = -0.9; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; early radiographic signs of Madelung wrist deformity were present; bone age was 6.8 years at chronological age of 7.3 years; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a 2-bp insertion, ins350AG, in exon 3 of the SHOX gene causing a frameshift that truncates the predicted SHOX protein after the first 13 amino acids of the homeodomain [130X]; subject's mother had Leri-Weill dyschondrosteosis and was heterozygous for the SHOX gene deletion; subject's father had borderline short stature (height -1.6 SD) and short legs and was heterozygous for the ins350AG mutation; clinically normal 6 month old sister had neither the SHOX deletion nor the ins350AG mutation.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20216
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:7 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 ins350AG
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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