GM26038皮特霍普金斯综合症； PTHS |转录因子 4； TCF4 皮肤、臀部大腿成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26038 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 Skin, Buttock-thigh 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 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26037 (lymphoblast) and GM27270 (stem cell).
Category分类：Fibroblast
ID编号:NTCC®-GM26038
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:11 YR
Gender性别:Male
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Affected State:Yes
Product:Fibroblast
Gene:TCF4
Mutations突变:ARG174TER; c.520C>T
Ethnicity:Spanish; German; Irish; Italian
Family:3317
Relationship:proband
Karyotype:46,XY[23].arr(1-22)x2,(X,Y)x1
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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