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GM22366 LCL from B-Lymphocyte

Description:

PROPIONIC ACIDEMIA
PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA

Affected:

Yes

Sex:

Female

Age:

11 MO (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed at 19 days of age by newborn screen; no family history; gut motility is normal; eats by mouth; not yet walking; on levocarnitine and metabolic formula; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 667 of the PCCA gene (667G>A) resulting in the substitution of lysine for glutamic acid at codon 233 [Glu233Lys (E233K)]; the second allele has a G>T change at nucleotide 1355 (1355G>T) resulting in a substitution of valine for glycine at codon 452 [Gly452Val (G452V)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene PCCA
Chromosomal Location 13q32
Allelic Variant 1 E233K; PROPIONIC ACIDEMIA
Identified Mutation GLU233LYS
 
Gene PCCA
Chromosomal Location 13q32
Allelic Variant 2 G452V; PROPIONIC ACIDEMIA
Identified Mutation GLY452VAL

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 11 MO
Sex Female
Age at Diagnosis(If not a control) 19 DA
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  3.26
Was child breast-fed? yes   no  unknown 
If yes, duration in months  19 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  E233K (667G>A)
Mutations Allele 2  G452V (1355G>T)
Family History
Are there other family members with PA? yes  no   unknown 
Other affected relatives? yes  no   unknown 
Has the individual passed away? yes  no   unknown 
Clinical Evaluation
Respiratory
Apnea yes  no   unknown 
Tachypnea yes  no   unknown 
Cardiovascular
Cardiomyopathy yes  no   unknown 
Long QT? yes  no   unknown 
If yes, type  No Data
Abdominal/Gastrointestinal
Pancreatitis chronic  acute  never noted  
Kidney problems yes  no   unknown 
Liver transplant yes  no   unknown 
Port-a-cath currently in place  not currently in place  never had one  
Gut motility normal   slow  requires medication  unknown 
Reflux yes  no   unknown 
Eating by mouth  100%
Tube fed yes  no   unknown 
Vomiting  infrequently
Are anti-emetics used for vomiting yes  no   unknown 
Neurologic
Basal ganglia damage yes  no   unknown 
If yes, determined by  No Data
Seizures yes  no   unknown 
Autism spectrum disorder yes  no   unknown 
ADD/ADHD yes  no   unknown 
Optic nerve damage yes  no   unknown 
Neutropenia chronic  acute  unknown  
Anemia yes  no   unknown 
Immune deficiency yes  no   unknown 
Treated with IVIG yes  no   unknown 
Low platelets chronic  acute  not applicable  unknown  
Asthma yes  no   unknown 
Secondary hip dysplasia yes  no   unknown 
Broken bones yes  no   unknown 
Short stature yes  no   unknown 
Growth hormone treatment yes  no   unknown 
Osteoporosis yes  no   unknown 
Developmental Evaluation
Walking  not at all
Language  age appropriate
Congitive ability  age appropriate
IQ known  untested   unsure 
Metabolic
Is the individual biotin responsive yes  no   unknown 
Episodes of ketoacidosis yes  no   unknown 
Chronic hyperammonemia yes  no   unknown 
Is the individual currently on metabolic formula yes   no  unknown 
If yes, which ones Propimex
Is the individual taking levocarnitine yes   no  unknown 
Other supllements Iron
Remarks Clinically affected; diagnosed at 19 days of age by newborn screen; no family history; gut motility is normal; eats by mouth; not yet walking; on levocarnitine and metabolic formula; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 667 of the PCCA gene (667G>A) resulting in the substitution of lysine for glutamic acid at codon 233 [Glu233Lys (E233K)]; the second allele has a G>T change at nucleotide 1355 (1355G>T) resulting in a substitution of valine for glycine at codon 452 [Gly452Val (G452V)]

External Links

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Gene Cards PCCA
Gene Ontology GO:0004658 propionyl-CoA carboxylase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0006631 fatty acid metabolism
GO:0008152 metabolism
GO:0009374 biotin binding
GO:0016874 ligase activity
GEO GEO Accession No: GSM1050411
GEO Accession No: GSM1050412
NCBI Gene Gene ID:5095
NCBI GTR 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA
606054 PROPIONIC ACIDEMIA
OMIM 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA
606054 PROPIONIC ACIDEMIA
Omim Description PROPIONIC ACIDEMIA

Culture Protocols

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Split Ratio 1:3
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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