GM20214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® GM20214 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 84.9 years: height = 130 cm, height SD score = -5.5, upper to lower segment ratio = 1.3, upper to lower segment z-score = 13.7, arm span = 105.3 cm, arm span z-score = -7.9, right tibial length z-score = -5.7, right radial length z-score = -6.3, fourth metacarpal z-score = -2.3; menarche at age 13 years; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 457 in exon 3 of the SHOX gene [457C>T] resulting in a substitution of cysteine for arginine at codon 153 [Arg153Cys (R153C)] and a second allele has a G>T transversion at nucleotide 487 in exon 4 of the SHOX gene [487G>T] resulting in a substitution of phenylalanine for valine at codon 163 [Val163Phe (V163F)]; subject's mother reportedly had short stature (152 cm) and short arms and father reportedly had normal stature (178 cm) and short arms.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20214
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:84 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:ARG153CYS VAL163PHE
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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