GM20000科妮莉亚·德朗格综合症 1； CDLS1 | B 状咬伤； NIPBL B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20000 CORNELIA DE LANGE SYNDROME 1; CDLS1 | NIPPED-B-LIKE; NIPBL B-Lymphocyte Cell Line
科妮莉亚·德朗格综合症 1； CDLS1 | B 状咬伤； NIPBL细胞株
Description描述：Clinically affected; pregnancy complicated by IUGR and oligohydramnios; born at 38 weeks gestation; birthweight 1637g (<10th percentile), birthlength 40.5 cm (<10th percentile), head circumference at birth 29 cm (<10th percentile); poor respiratory effort in the delivery room necessitated intubation; GE reflux; at one day of life EKG showed left axis deviation, nonspecific intraventricular block and left ventricular hypertrophy with repolarization abnormality but repeat EKG at 5 days of life was normal; ECHO showed patent foramen ovale and some tricuspid regurgitation; moderate bilateral hydronephrosis; undescended testicles and midline chordee; ptosis; glaucoma; single left forearm bone with presence only of a thumb and 2nd finger; contracture of elbow on left; right hand showed distal hypoplasia and synphalangism of the 5th finger; head ultrasound on day one of life showed enlargement of cisterna magna; arachnoid cyst noted on brain MRI; brain CT showed small right posterior fossa subdural hemorrhage; severe hearing loss bilaterally per failed BAER in neonatal period and at 6 months of age; brachycephaly; depressed nasal bridge; synophyrys; thin upper lip; hirsutism; thick, curly eyelashes; high, ridged palate; posteriorly rotated and cupped ears; hypoplastic nipples and umbilicus; small feet; history of 3 hospitalizations involving feeding and respiratory problems; at 13 months of age: height was 59.5 cm (<5th percentile), weight was 4.75 kg (<5th percentile), head circumference was 39.25 cm (<3rd percentile); donor subject carries a 5721del5 frameshift mutation in exon 31 of the NIPBL gene. The deletion begins with a change in the third codon for Asparagine at position 1907, which is therefore conserved. The deletion results in a stop codon 13 amino acids after this site at position 1920 (N1907fsX13).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20000
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: More than one race
Age年龄:1 YR
Gender性别:Male
Cell Type细胞类型: CORNELIA DE LANGE SYNDROME 1; CDLS1 | NIPPED-B-LIKE; NIPBL
Affected State:Yes
Product:LCL
Gene:NIPBL
Mutations突变:5721del5
Ethnicity:CAUCASIAN/HISPANIC
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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