GM232772Q37 染色体缺失综合征 |组蛋白脱乙酰酶 4； HDAC4 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23277 CHROMOSOME 2Q37 DELETION SYNDROME | HISTONE DEACETYLASE 4; HDAC4 B-Lymphocyte Cell Line
2Q37 染色体缺失综合征 |组蛋白脱乙酰酶 4；组蛋白去乙酰化酶4细胞株
Description描述：Clinically affected; mental retardation; behavioral problems (agression and self-injurious behavior like skin picking); obesity; mild type E brachydactyly; developmental delay; motor delay; language impairment; sleeping difficulties; decreased sensitivity to pain; short stature; broad face; upslanting eyes; broad, not upturned nose; small chin; narrow palpebral fissures; constipation; hypermobility; bitemporal narrowing; dental anomalies; donor subject is heterozygous for a de novo 65 bp deletion in intron 5 of the HDAC4 gene (490+56_121del65) predicted to alter the splicing of exons 5 and 6
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23277
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:16 YR
Gender性别:Female
Cell Type细胞类型: CHROMOSOME 2Q37 DELETION SYNDROME | HISTONE DEACETYLASE 4; HDAC4
Affected State:Yes
Product:LCL
Gene:HDAC4
Mutations突变:65-BP DEL, NT490+56
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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