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GM22496 LCL from B-Lymphocyte

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Male

Age:

8 WK (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • 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 Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed by newborn screening; hospitalized for decreased feeding; low muscle tone, hypothermia, severe hyperammonemia and metabolic acidosis; markedly elevated propionic acid metabolites by urine organic acid analysis; no family history; on 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

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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

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Demographic Data
Relation to Proband proband
Age at Sampling 8 WK
Sex Male
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  3.09
Length at birth in cm  50.17
Was child breast-fed? yes   no  unknown 
If yes, duration in months  VERY LITTLE BEFORE HOSPITALIZATION
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
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 
Are anti-emetics used for vomiting  No Data
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
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
Is the individual taking levocarnitine yes   no  unknown 
Other supllements
Remarks Clinically affected; diagnosed by newborn screening; hospitalized for decreased feeding; low muscle tone, hypothermia, severe hyperammonemia and metabolic acidosis; markedly elevated propionic acid metabolites by urine organic acid analysis; no family history; on 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)

Publications

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Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018
PubMed ID: 30326846

External Links

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GEO GEO Accession No: GSM1050455
GEO Accession No: GSM1050456
NCBI GTR 606054 PROPIONIC ACIDEMIA
OMIM 606054 PROPIONIC ACIDEMIA
Omim Description PROPIONIC ACIDEMIA

Culture Protocols

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Split Ratio 1:4
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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