GM26068 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® GM26068 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; heterozygous for a missense de novo variant of unknown significance c.1841C>T (p.A614V) in exon 18 of TCF4 gene; homozygous for benign variant IVS8+137G>A in ZEB2 gene; onset of symptoms at 9 months of age when milestones were not met; diagnosed at 2 years of age; tested for: urine creatinine, plasma amino acids profile is unremarkable, normal acyclcarnitine profile, and normal urine organic acid; normal methylation pattern in AS critical region; negative for CGG repeat expansion in FMR1 gene; tested by karyotyping and microarray; treatment and management: physical therapy, occupational therapy, orthotics, speech language therapy (regularly, 1+ x/week); eye surgery to correct strabismus; same subject as GM26023 (fibroblast).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26068
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:8 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.1841C>T
Ethnicity:ENGLISH
Family:3322
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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