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 Failed To Generate
CSNK2A1 593A>G Lys198Arg PBMCS In Progress
CSNK2A1 149A>C Arg312Trp PBMCS Yes
CSNK2A1 149A>C Tyr50Ser PBMCS No
CSNK2A1 139C>G Arg47Gly PBMCS Failed To Generate
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 R47G 


3. Csnk2a1 Knockout 


4. 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.

Other Resources 

List of Services