Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • 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
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • 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
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
NA22112 DNA from LCL

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Female

Age:

12 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; newborn screened and diagnosed at 1 week of age; failure to thrive; affected sister is GM22113; tachypnea; slow gut motility; g-tube; infrequent vomiting; seizures; acute anemia; walked at 18 months of age; talked at age 2 years; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 1 232050.0003; PROPIONIC ACIDEMIA
Identified Mutation 12-BP INS, 14-BP DEL, NT1218; Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp, respectively, following nucleotide 1218. This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence.
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 2 232050.0003; PROPIONIC ACIDEMIA
Identified Mutation 12-BP INS, 14-BP DEL, NT1218; Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp, respectively, following nucleotide 1218. This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence.

Phenotypic Data

back to top
Demographic Data
Relation to Proband proband
Age at Sampling 12 YR
Sex Female
Age at Diagnosis(If not a control) 1 WK
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
 
Data Elements
Clinical Element Type: Propionic Acidemia
  (Baseline)
Neonatal Data
Was this child newborn screened? yes   no  unknown 
If yes, was the result prior to hospitalization yes  no   unknown 
Weight at birth in kgs  No Data
Length at birth in cm  No Data
Was child breast-fed? yes   no  unknown 
If yes, duration in months  4 DAYS
Failure to thrive? yes   no  unknown 
Molecular/Enzyme Laboratory Test Results
Which Gene: PCCA? yes  no   unknown 
Which Gene: PCCB? yes   no  unknown 
Mutations Allele 1  C.1218DEL14INS12
Mutations Allele 2  C.1218DEL14INS12
Method (if known)  No Data
Enzyme activity - % of normal  No Data
Absolute amount  No Data
Family History
Are there other family members with PA? yes   no  unknown 
Number of siblings with PA  1
Number of living siblings with PA  1
Other affected relatives? yes  no   unknown 
If so, Relationship  No Data
Has the individual passed away? yes  no   unknown 
If yes, age at death  No Data
Clinical Evaluation
Current weight in kgs  54
Current height in cms  149
Respiratory
Apnea yes  no   unknown 
Tachypnea yes   no  unknown 
Cardiovascular
Cardiomyopathy yes  no   unknown 
If yes, type  No Data
Age at diagnosis of cardiomyopathy  No Data
Age at time of transplant  No Data
Long QT? yes  no  unknown  
If yes, type  No Data
Age at diagnosis of long QT  No Data
Abdominal/Gastrointestinal
Pancreatitis chronic  acute  never noted  
Kidney problems yes  no   unknown 
Liver transplant yes  no   unknown 
If yes, age at transplant  No Data
Port-a-cath currently in place  not currently in place  never had one  
Gut motility normal  slow   requires medication  unknown 
List medications  No Data
Reflux yes  no   unknown 
List medications  No Data
Eating by mouth  51-99%
Tube fed yes   no  unknown 
If yes, what kind  G-tube
Vomiting  infrequently
Are anti-emetics used for vomiting yes   no  unknown 
List medications  ZOPHRAN
Neurologic
Basal ganglia damage yes  no  unknown  
If yes, determined by  No Data
Seizures yes   no  unknown 
If yes, type and frequency  LAST ONE AT AGE 10 YRS
Autism spectrum disorder yes  no   unknown 
ADD/ADHD yes  no   unknown 
Optic nerve damage yes  no  unknown  
If yes, age at detection  No Data
Neutropenia chronic  acute  unknown  
List medications  No Data
Anemia yes   no  unknown 
If yes, type of anemia  No Data
Immune deficiency yes  no   unknown 
Treated with IVIG  No Data
Low platelets chronic  acute  not applicable   unknown 
Asthma yes  no   unknown 
Secondary hip dysplasia yes  no  unknown  
Broken bones yes  no   unknown 
If yes, type of fracture and location  No Data
Short stature yes  no   unknown 
Growth hormone treatment yes  no   unknown 
Osteoporosis yes  no   unknown 
Developmental Evaluation
Walking  75% of the time
Age when first walked  18 MONTHS
Language  significantly below age level
Age when first talked  2 YEARS
Congitive ability  moderately impaired
IQ known  untested  unsure  
If known, give value or age level  No Data
Metabolic
Is the individual biotin responsive yes  no   unknown 
Episodes of ketoacidosis yes   no  unknown 
If yes, give frequency  once a month or more
Chronic hyperammonemia yes   no  unknown 
Currently elevated  <2 times normal
Is the individual currently on metabolic formula yes   no  unknown 
If yes, which ones Propimex
SHS XMTVI
OA
Pro-phree
PFD
80056
Duocal
Polcyose
Vitaflo
Is the individual taking levocarnitine yes   no  unknown 
If yes, mg/kg  No Data
Other supllements Co-Q10
DHA
Vitamin E
B-6
Biotin
Thiamin
Multi-vitamin
Iron
Other
None
Unknown
Remarks Clinically affected; newborn screened and diagnosed at 1 week of age; failure to thrive; affected sister is GM22113; tachypnea; slow gut motility; g-tube; infrequent vomiting; seizures; acute anemia; walked at 18 months of age; talked at age 2 years; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)

External Links

back to top
GEO GEO Accession No: GSM1050427
GEO Accession No: GSM1050428
NCBI GTR 606054 PROPIONIC ACIDEMIA
OMIM 606054 PROPIONIC ACIDEMIA
Omim Description PROPIONIC ACIDEMIA
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM22112 - B-Lymphocyte
Same Family
  • 2776
Miscellaneous
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube