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Understanding
Okur-Chung Neurodevelopmental Syndrome

Research Toolbox

We are committed to working with institutions and researchers that share reagents, biospecimens, cells lines, animal models, and data. 

Available Cell Lines 

OCNDS Human Dermal Fibroblasts 

  • Healthy control male and female human dermal fibroblast cell lines are also available. 
  • Available from: Translational Genomics Research Institute Center for Rare Childhood Disorders 
  • Contact: Matt Huentelman, PhD, mhuentelman@tgen.org
Sex CSNK2A1 Mutation Family ID
Female NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 F215-P001
Female NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 F215-P003 (Affected half-sister of F215-P001)
Female NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) chr20:505192 F565-P001
Female NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) chr20:495761 N017-P001
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iPSCs

  • Induced pluripotent stem cells from individuals with OCNDS are available via Simons SFARI Base. Please see table below for available lines. 
GENE C. P. SOURCE Co-Isogenic Controls
CSNK2A1 140G>A Arg47Gln PBMCS No
CSNK2A1 593A>G Lys198Arg PBMCS No
CSNK2A1 CNV: 378136-547319 CNV deletion PBMCS No
CSNK2A1 468T>A Asp156Glu PBMCS In Progress
CSNK2A1 593A>G Lys198Arg PBMCS In Progress
CSNK2A1 149A>C Arg312Trp PBMCS In Progress
CSNK2A1 149A>C Tyr50Ser PBMCS No
CSNK2A1 139C>G Arg47Gly PBMCS In Progress
CSNK2A1 140G>A Arg47Gln PBMCS No

Mouse Models

1. Csnk2a1 K198R 

  • Available through Jackson Labs
  • Hosted through NIH’s Mutant Mouse Resource and Research Centers (MMRRC); stock number 067399-JAX
  • Cryo-preserved spermatozoa available. 
  • Limited quantities of breeder mice (recovered litter) are available from a cryoarchive. Recovered litter is usually available to ship in 3 to 4 months. 
  • Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information. 
  • K198R brain slices also available from Dr. Heike Rebholz (heike.rebholz@inserm.fr


2. Csnk2a1 R312W


3. Csnk2a1 R47G 


4. Csnk2a1 Constitutive Knockout 

  • Available through Taconic
  • Stored as cryopreserved materials (spermatozoa). Cohorts can typically be produced and delivered to the customer within 14-16 weeks of order receipt.


5. Csnk2a1 Conditional Mice

Phenotypic and Genetic Data (Natural History) 

Measures in individuals with genetic variants Baseline Annual
MEDICAL RECORDS
Clinical Genetic Lab Results X
INTERVIEW + ONLINE SURVEYS *
Medical History X X
Previous Diagnosis history (neuropsychiatric) X X
Medications X X
ONLINE SURVEYS
NDAR Global Unique Identifiers X
Children's Sleep Habits Questionnaire X
Simons Searchlight Sleep Supplement X
Seizure History X X
Vineland Adaptive Behavior Scales 3rd Edition X X
Background History X
Child Behavior Checklist X X
Social Responsiveness Scale-2 X X
Social Communication Questionnaire X
Quality of Life (QI-Disability and Family Impact) X
Brief Developmental Update X X

Biospecimens

Gene Information

CSNK2A1 – casein kinase 2 alpha 1 


Also known as: CK2A1, CKII, Cka1, Cka2, OCNDS 

Location: 20p13 

Amino acid count: 391 

Exon count: 14 

NCBI Orthologs: ncbi.nlm.nih.gov

Leiden Open Variation Database: databases.lovd.nl

OMIM Entry: omim.org

 

Simple ClinVar 

Simple ClinVar was developed to provide gene- and disease-wise summary statistic based on all available genetic variants from ClinVar. 

Protein Information 

UniProt 

UniProt is the world’s leading high-quality, comprehensive, and freely accessible resource of protein sequence and functional information. 


Crystal Structure 

  • Niefind et. al., “Crystal structure of human protein kinase CK2: insights into basic properties of the CK2 holoenzyme”, EMBO J. 2001 Oct 1; 20(19): 5320–5331 ncbi.nlm.nih.gov
  • RCSB Protein Data Bank


Substrates 

The Rebholz lab created a resource of CK2 substrates focused on the brain. See the list here.

Other Resources 

List of Services

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