GM25987皮特霍普金斯综合症； PTHS |转录因子 4； TCF4 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25987 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; symptom onset at birth; diagnosed at 2 years; mild dysmorphic features: bitemporal narrowing, epicanthal folds, strabismus, high arched narrow palate, and low set simple ears; constipation; delayed motor milestones; speech delay; global developmental delay; whole exome sequencing (WES) revealed a de novo heterozygous c.1738C>T (p.R580W) pathogenic variant in the TCF4 gene; therapies: physical therapy and occupational therapy; family history: two maternal cousins (not in repository) with intellectual disability; unaffected mother is GM25988.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25987
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:2 YR
Gender性别:Female
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Affected State:Yes
Product:LCL
Gene:TCF4
Mutations突变:ARG580TRP; c.1738C>T
Ethnicity:
Family:3312
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:

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