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GM22025
LCL
from
B-Lymphocyte
Description:
PROPIONIC ACIDEMIA
Affected:
Yes
Sex:
Male
Age:
9
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
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
Family Member
1
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Gene
PCCB
Chromosomal Location
3q21-q22
Allelic Variant 1
G112D; PROPIONIC ACIDEMIA
Identified Mutation
GLY112ASP
Gene
PCCB
Chromosomal Location
3q21-q22
Allelic Variant 2
Ala402fs; PROPIONIC ACIDEMIA
Identified Mutation
1204delG
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
9 YR
Sex
Male
Age at Diagnosis(If not a control)
1 WK
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
Was child breast-fed?
yes
no
unknown
If yes, duration in months
2 DAYS ONLY
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
335G>A
Mutations Allele 2
1204DELG
Family History
Are there other family members with PA?
yes
no
unknown
Other affected relatives?
yes
no
unknown
Has the individual passed away?
No Data
Clinical Evaluation
Current weight in kgs
35.6
Current height in cms
127
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
1-50%
Tube fed
yes
no
unknown
If yes, what kind
G-tube
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
No Data
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
100% of the time
Age when first walked
18 MONTHS
Language
uses assistive technology (device, PECS or sign)
Age when first talked
2 YRS
Congitive ability
moderately impaired
IQ
known
untested
unsure
Metabolic
Is the individual biotin responsive
yes
no
unknown
Episodes of ketoacidosis
yes
no
unknown
If yes, give frequency
infrequently
Chronic hyperammonemia
yes
no
unknown
Is the individual currently on metabolic formula
yes
no
unknown
If yes, which ones
Propimex
Pro-phree
Is the individual taking levocarnitine
yes
no
unknown
Other supllements
Biotin
Iron
Remarks
Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)
External Links
GEO
GEO Accession No: GSM1050475
GEO Accession No: GSM1050476
NCBI GTR
606054 PROPIONIC ACIDEMIA
OMIM
606054 PROPIONIC ACIDEMIA
Omim Description
PROPIONIC ACIDEMIA
Culture Protocols
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
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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