Coriell Institute for Medical Research
Request a Quote
Careers
Login
View Cart
Samples
OR
Website
Search Help?
Sample Catalog
|
Custom Services
|
Core Facilities
|
Genomic Data Search
Navigation Header
Biobank
NIGMS
NINDS
NIA
NHGRI
Allen Cell Collection
Rett Syndrome iPSC Collection
Autism Research Resource
HD Community Biorepository
CDC Cell and DNA
NEI
J. Craig Venter Institute
Orphan Disease Center Collection
Phase Clinical Services
All Biobanks
Research
Overview
Meet Our Scientists
Our Faculty
Our Scientific Staff
Camden Cancer Research Center
Epigenetic Therapies SPORE
Core Facilities
Epigenomics
Camden Opioid Research Initiative (CORI)
The Issa & Jelinek Lab
The Jian Huang Lab
The Luke Chen Lab
The Lab
The Team
Publications
The Scheinfeldt Lab
The Shumei Song Lab
The Nora Engel Lab
The Lab
The Team
Publications
Coriell Personalized Medicine Collaborative (CPMC)
Publications
Services
Stem Cells
Biobanking and Distribution
Biobanking
Biological and Pharmaceutical Storage
Collection Kits
Coriell Marketplace
Research Support Services
Sample Procurement
Cellular and Molecular Analysis
Genomic and Epigenomic Services
Nucleic Acid Isolation and Quality Control
Customized Experimental Design and Research Solutions
Biomarkers
Cell Culture
Research and Development Models
Browse
Stem Cells
Cell Lines
DNA and RNA
Featured Products
FFPE
HMW DNA
Genomic Data Search
Diseases
Rare Diseases
Species
Gene Variants, Mutations
Notable Collections
GRC
REGARDS
Amish Major Affective Disorders
Longevity Research
Search by Catalog ID
Search Help
Ordering
Create Account
Order Online
Ordering FAQ
FAQs/Culture Instructions
Fibroblast Cultures
Lymphoblast Cultures
DNA Samples
RNA Samples
NIA mESC
AICS fluorescently tagged hiPSC
Adipose Stromal Cultures
Melanocyte Cultures
Keratinocyte Cultures
Mammary Epithelial Cultures
Amniotic Fluid-Derived Cultures
Endothelial and Smooth Muscle Cultures
Mesothelial Cultures
Myoblast Cultures
EBV Protocol
Cell Culture Medium
Passage vs PDL
Fetal Bovine Serum
ISCN Nomenclature
Reference Materials
Biobanks
NIGMS Repository
NHGRI Repository
NINDS Repository
NIA Repository
NIST
GeT-RM
MTA Assurance Form
Shipment Policy
Contact Customer Service
Donate
Our Message
Your Impact
Giving FAQs
Make a Donation
About Us
Our History
Meet Our Team
Meet Our Board
Education
Science Fair
Summer Experience
Outreach
Research Program Internship
Press Room
Press Releases
Coriell Blog
Annual Report
Careers
Working at Coriell
Current Openings
Giving
Our Message
Your Support in Action
Giving FAQ
Giving Tuesday
Contact Us
Legal Notice
Login
View Cart
search submit
GM28570
LCL
from
B-Lymphocyte
Description:
HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP
Affected:
Yes
Sex:
Male
Age:
2
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
Asian
Subject Type
parent/child
Ethnicity
Indian
Country of Origin
AUSTRALIA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Biochemical characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected. Cognitive and language delay. De novo heterozygous mutation c.2212dupT (p.Ser738Phefs*6) in the ADNP gene. See "Phenotypic Data" Tab.
Characterizations
Gene
ADNP
Chromosomal Location
20q13.13
Allelic Variant 1
p.Ser738Phefs*6; HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
Identified Mutation
c.2212dupT (p.Ser738Phefs*6)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
2 YR
Sex
Male
Age of Onset(If not a control)
6 MO
Age at Diagnosis(If not a control)
1 YR
Racial Category
Asian
Country
AUSTRALIA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
CLINICAL EXOME TRIO ANALYSIS REVEALED A MUTATION IN THE ADNP GENE, C.2212DUPT: P.SER738PHEFS*6.
Zygosity:
Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
6 MONTHS
Age at Diagnosis:
1 YEAR AND 9 MONTHS
In Utero History Information
Additional Information:
POSTPARTUM DEPRESSION
Birth History Information
Difficulty breathing
Additional Information:
DID NOT CRY AT BIRTH & NEEDED RESUSCITATION; APGAR SCORES 6/10 AND 8/10 AT 1 AND 5 MINS; HAD MILDLY LOW SUGARS AND NEEDED SUPPLEMENTARY FORMULA; LETHARGIC; FEBRILE AND ABSENT SEIZURES; BREATH HOLDING SPASMS W/ UNCONSCIOUSNESS AT 3 MONTHS OF AGE (NOT ANY MORE SINCE 19 MONTHS OF AGE)
Dysmorphic Features
Strabismus
Hypotelorism
Additional Information:
LOW HAIR LINE; INVERTED V SHAPED UPPER LIP; LOW SET EARS
Neurological Symptoms
Seizures
Unstable gait
Additional Information:
EPISODES OF FEBRILE SEIZURE AT 6 AND 8 MONTHS; EPISODE OF ABSENCE SEIZURE AT THE AGE OF 15 MONTHS; CORTICAL CYSTS
Optical and Audiological Symptoms
Congenital exotropia
Additional Information:
USES SIGN LANGUAGE AND PECS. EXOTROPIA PRESENT WITH NORMAL VISION
Musculoskeletal Symptoms
Additional Information:
RESTRICTED FLEXION AND EXTENSION AT KNEES AND ANKLES WITH WIDE GAIT.
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Holding Head Up Without Assistance:
Achieved and maintained
Sitting Without Assistance:
Achieved and maintained
Walking Without Assistance:
Achieved and maintained
Additional Information:
INTELLECTUAL DELAYS EARLY INTERVENTION FOR DEVELOPMENTAL DELAYS PROGRESSING REMARKABLY IN GROSS MOTOR ABILITIES IMPROVING FINE MOTOR AND VISOU-MOTOR ABILITIES LEARNING RUNNING AND JUMPING
Gastrointestinal Symptoms
Additional Information:
FOOD INTOLERANCE; CHOKING; FOOD SENSITIVITIES WITH ELIMINATION DIET
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Breathing irregularities
Additional Information:
BREATH HOLDING SPASMS CAUSING UNCONSCIOUSNESS UP TO THE AGE OF 19 MONTHS
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Additional Information:
ORAL SENSORY SEEKING; EXPRESSES ANGER BY CLENCHING AND TIGHTENING HIMSELF WITH CRYING AND SCREAMING; FLAPS HANDS AND BOUNCES WHEN HAPPY; HAS THE PRESENCE OF AUTISM LIKE FEATURES NEED TO HAVE SOMEONE AROUND HIM ALL THE TIME; DEPENDENT ON HIS CARE GIVERS FOR ALL ACTIVITIES OF DAILY LIVING
Additional Information
Uncategorized Symptoms:
ECZEMA; FOOD ALLERGIES
Testing Performed
Neurological Testing:
NORMAL EEG; MRI SHOWED CORTICAL CYSTS
Optical and Audiological Testing:
EXOTROPIA PRESENT WITH NORMAL VISION; PLAY BASED AUDIOMETRY - NORMAL HEARING
Respiratory and Cardiovascular Testing:
2DECHO (NORMAL)
Cognitive and Behavioral Testing:
PLAY BASED ASSESSMENT
Metabolic, Hematologic, and Endocrinologic Testing:
THYROID SCREENING (NORMAL); RENAL FUNCTION (NORMAL)
Uncategorized Testing:
ALLERGY TESTING
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Medications
EPI-PEN TO TREAT ALLERGIES ELIMINATION DIET
Family History
Remarks
Clinically affected. Cognitive and language delay. De novo heterozygous mutation c.2212dupT (p.Ser738Phefs*6) in the ADNP gene. See "Phenotypic Data" Tab.
External Links
NCBI GTR
615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
OMIM
615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
Culture Protocols
Split Ratio
1:5
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
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:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
Same Subject
GM28947 - Stem cell
Same Family
NIGMS00012
Miscellaneous
DNA on Demand
Custom Services