GM22010

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GM22010 LCL from B-Lymphocyte

Description:

PROPIONIC ACIDEMIA
PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA

Affected:

Yes

Sex:

Male

Age:

7 YR (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

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed in first week of life; no family history of PA; acute pancreatitis; normal gut motility; G-tube for 100% of feeding; vomitting at least once a week; had seizures only during birth crisis; chronic neutropenia; immune deficiency; first walked at 20 months of age; uses assisting language technology; moderately impaired cognitive ability; IQ of 41; chronic hyperammonemia (<2 times normal); currently on metabolic formula and levocarnitine; donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene

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

; PROPIONIC ACIDEMIA

Identified Mutation

G216fs

Gene

PCCA

Chromosomal Location

13q32

Allelic Variant 2

; PROPIONIC ACIDEMIA

Identified Mutation

G216fs

Phenotypic Data

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Demographic Data

Relation to Proband

proband

Age at Sampling

7 YR

Sex

Male

Age of Onset(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

No Data

Weight at birth in kgs

4.025

Length at birth in cm

55

Was child breast-fed?

yes no unknown

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

G216FS

Mutations Allele 2

G216FS

Enzyme activity - % of normal

0

Absolute amount

NOT DETECTABLE

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

30.2

Current height in cms

120

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

0%

Tube fed

yes no unknown

If yes, what kind

G-tube

Vomiting

once a week or more

Are anti-emetics used for vomiting

yes no unknown

List medications

ZOFRAN

Neurologic

Basal ganglia damage

yes no unknown

If yes, determined by

No Data

Seizures

yes no unknown

If yes, type and frequency

SEIZURES AT BIRTH CRISIS ONLY

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

100% of the time

Age when first walked

20 MONTHS

Language

uses assistive technology (device, PECS or sign)

Congitive ability

moderately impaired

IQ

known untested unsure

If known, give value or age level

41

Metabolic

Is the individual biotin responsive

yes no unknown

Episodes of ketoacidosis

yes no unknown

Chronic hyperammonemia

yes no unknown

Currently elevated

<2 times normal

Is the individual currently on metabolic formula

yes no unknown

If yes, which ones

SHS XMTVI
PFD

Is the individual taking levocarnitine

yes no unknown

Other supllements

Co-Q10
DHA
Vitamin E
Biotin

Remarks

Clinically affected; diagnosed in first week of life; no family history of PA; acute pancreatitis; normal gut motility; G-tube for 100% of feeding; vomitting at least once a week; had seizures only during birth crisis; chronic neutropenia; immune deficiency; first walked at 20 months of age; uses assisting language technology; moderately impaired cognitive ability; IQ of 41; chronic hyperammonemia (<2 times normal); currently on metabolic formula and levocarnitine; donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene

Publications

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Thomas SP, Denu JM, Short-chain fatty acids activate acetyltransferase p300 eLife10: 2021

PubMed ID: 34677127

External Links

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Gene Cards

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: GSM1050439

GEO Accession No: GSM1050440

NCBI Gene

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

1:2

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Add to Cart

How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form

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Miscellaneous

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