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search submit
GM22555
LCL
from
B-Lymphocyte
Description:
PROPIONIC ACIDEMIA
Affected:
Yes
Sex:
Female
Age:
5
MO
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
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
Family History
N
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; diagnosed by newborn screen; no family history; normal gut motility; eating by mouth; acute neutropenia; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1606 in exon 15 of the PCCB gene (c.1606A>G) resulting in the substitution of aspartic acid for asparagine at codon 536 [Asn536Asp (N536D)] and the second allele has a 1 bp deletion (1209+2delT)
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Gene
PCCB
Chromosomal Location
3q21-q22
Allelic Variant 1
N536D; PROPIONIC ACIDEMIA
Identified Mutation
ASN536ASP
Gene
PCCB
Chromosomal Location
3q21-q22
Allelic Variant 2
; PROPIONIC ACIDEMIA
Identified Mutation
1209+2delT
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
5 MO
Sex
Female
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
3.1
Length at birth in cm
50
Was child breast-fed?
yes
no
unknown
If yes, duration in months
1 WEEK
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
1606A>G
Mutations Allele 2
1209+2DELT
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
Current weight in kgs
6.35
Current height in cms
61.5
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
SHS XMTVI
Is the individual taking levocarnitine
yes
no
unknown
If yes, mg/kg
100
Other supllements
Remarks
Clinically affected; diagnosed by newborn screen; no family history; normal gut motility; eating by mouth; acute neutropenia; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1606 in exon 15 of the PCCB gene (c.1606A>G) resulting in the substitution of aspartic acid for asparagine at codon 536 [Asn536Asp (N536D)] and the second allele has a 1 bp deletion (1209+2delT)
Publications
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
NCBI GTR
606054 PROPIONIC ACIDEMIA
OMIM
606054 PROPIONIC ACIDEMIA
Omim Description
PROPIONIC ACIDEMIA
Culture Protocols
Split Ratio
1:2
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
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