GM27203 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27203 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 B-Lymphocyte Cell Line
皮特霍普金斯综合症； PTHS |转录因子 4； TCF4细胞株
Description描述：Clinically affected; Pathogenic frameshift variant detected using Ambry Genetics Intellectual Disability Panel in the TCF4 gene - c.469delC (p.Arg157Glufs*77); premature delivery at 35 weeks and 3 days; absent sparse speech; hypotonia; delayed motor development; unstable ataxic gait; incoordination; square forehead; broad nasal bridge; wide open mouth; widely spaced teeth; cupped ears; fetal pads; occasional constipation; happy personality; sensory processing disorder; behavioral problems; wheelchair; communication learning device; wears glasses; physical therapy; occupational therapy; speech language therapy; special education services. _x000D_ Unaffected mother GM27205 (lymph) and GM27206 (fibro), Unaffected father GM27207 (lymph) and GM27208 (fibro).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM27203
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:6 YR
Gender性别:Male
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Affected State:Yes
Product:LCL
Gene:TCF4
Mutations突变:c.469delC (p.Arg157Glufs*77)
Ethnicity:Dutch
Family:3405
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
Tel电话：400-800-2947
Email：Biovector@163.com
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