GM20215 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® GM20215 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 65.3 years: height = 127.7 cm, height SD score = -7.2, upper to lower segment ratio = 1.8, upper to lower segment z-score = 30.3, arm span = 106.2 cm, arm span z-score = -9.2, right tibial length z-score = -8.0, right radial length z-score = -5.3, fourth metacarpal z-score = 0.9; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; subject's parents reportedly had short stature (both 157 cm); sister affected with Leri-Weill dyschondrosteosis; donor subject is hemizygous or homozygous for a 1-bp insertion of a C, ins723C, in exon 6a of the SHOX gene resulting in a frameshift that replaces the carboxy terminus with 50 novel amino acids; subject has no wildtype SHOX exon 6a. 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®-GM20215
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:65 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:1-BP INS, 723C
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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