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GM11166 LCL from B-Lymphocyte

Description:

CORNELIA DE LANGE SYNDROME 1; CDLS1

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks 46,XY in PBL; slightly small head circumferance; no hirsutism; low posterior hairline; confluent eyebrows; long lashes; broad nasal bridge; anteverted nostrils; prominent philtrum; high arched palate; low cry; small hands and feet; clinodactyly of 5th fingers

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 2 YR
Sex Male
 
Data Elements
Clinical Element Type: Cornelia deLange
  (Baseline)
Inheritance
Growth
Prenatal growth retardation present  absent  unknown  
Short stature present  absent  unknown  
Specific growth curves are available present  absent  unknown  
Head and Neck
Microcephaly present   absent  unknown 
Brachycephaly present  absent  unknown  
Long philtrum present   absent  unknown 
Micrognathia present  absent  unknown  
Low-set ears present  absent  unknown  
Hearing loss present  absent  unknown  
Synophrys present   absent  unknown 
Myopia present  absent  unknown  
Long curly eyelashes present   absent  unknown 
Anteverted nostrils present   absent  unknown 
Depressed nasal bridge present   absent  unknown 
Thin upper lip present  absent  unknown  
Downturned corners of the mouth present  absent  unknown  
High arched palate present   absent  unknown 
Cleft lip/palate present  absent  unknown  
Widely spaced teeth present  absent  unknown  
Late-erupting teeth present  absent  unknown  
Short neck present  absent  unknown  
Cardiovascular
Congenital heart defect present  absent  unknown  
Respiratory
Pneumonia present  absent  unknown  
Congenital diaphragmatic hernia present  absent  unknown  
Chest
Small nipples present  absent  unknown  
Abdomen
Gastroesophageal reflux present  absent  unknown  
Pyloric stenosis present  absent  unknown  
Genitourinary
Hypoplastic male genitalia present  absent  unknown  
Cryptorchidism present  absent  unknown  
Skeletal
Limited elbow extension present  absent  unknown  
Dislocation of the radial head present  absent  unknown  
Phocomelia present  absent  unknown  
Single transverse palmar crease present  absent  unknown  
Proximally placed thumbs present  absent  unknown  
Fifth finger clinodactyly present   absent  unknown 
Oligodactyly present  absent  unknown  
Syndactyly of toes 2 and 3 present  absent  unknown  
Skin, Hair, Nails
Cutis marmorata present  absent  unknown  
Single transverse palmar crease present  absent  unknown  
Hirsutism present  absent   unknown 
Low posterior hair line present   absent  unknown 
Neurologic
Mental retardation present  absent  unknown  
Hypertonicity present  absent  unknown  
Developmental delay present  absent  unknown  
Seizures present  absent  unknown  
Voice
Low-pitched, growling cry in infancy present   absent  unknown 
Molecular Basis
NIPBL gene mutation present  absent  unknown  
SMC1L1 gene mutation present  absent  unknown  
SMC3 gene mutation present  absent  unknown  
Remarks 46,XY in PBL; slightly small head circumferance; no hirsutism; low posterior hairline; confluent eyebrows; long lashes; broad nasal bridge; anteverted nostrils; prominent philtrum; high arched palate; low cry; small hands and feet; clinodactyly of 5th fingers

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024

External Links

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dbSNP dbSNP ID: 11488
NCBI GTR 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
OMIM 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
Omim Description BRACHMANN-DE LANGE SYNDROME; BDLS
  CORNELIA DE LANGE SYNDROME 1; CDL1
  CORNELIA DE LANGE SYNDROME; CDL
  TYPUS DEGENERATIVUS AMSTELODAMENSIS

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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