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NA23989 DNA from LCL

Description:

CITRULLINEMIA, TYPE II, NEONATAL-ONSET
SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Asian, Other
Ethnicity Not Hispanic/Latino
Ethnicity CHINESE
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Subject is clinically affected; diagnosed at newborn screening with first symptoms at 29 months; history of past hyperammoneic events; cholestasis; developmentally on target: walks, runs, climbs, plays with a ball, scribbles, colors, speaks 50-100 words in 2 languages (Mandarin-Chinese and Fuju); citrulline levels 483 umol/L in blood, mutations in the SLC25A13 gene: 1638_1660dup23 (p.A554G1sX16) and 615+5G>A; neurological evaluation at age 3 showed tone changes; tolerates high-protein, low-carbohydrate diet (ElaCare formula).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene SLC25A13
Chromosomal Location 7q21.3
Allelic Variant 1 603859.0003; CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Identified Mutation c.1638_1660dup23
 
Gene SLC25A13
Chromosomal Location 7q21.3
Allelic Variant 2 ; CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Identified Mutation c.615+5g>a

Phenotypic Data

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Remarks Subject is clinically affected; diagnosed at newborn screening with first symptoms at 29 months; history of past hyperammoneic events; cholestasis; developmentally on target: walks, runs, climbs, plays with a ball, scribbles, colors, speaks 50-100 words in 2 languages (Mandarin-Chinese and Fuju); citrulline levels 483 umol/L in blood, mutations in the SLC25A13 gene: 1638_1660dup23 (p.A554G1sX16) and 615+5G>A; neurological evaluation at age 3 showed tone changes; tolerates high-protein, low-carbohydrate diet (ElaCare formula).

Publications

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Pang AWC, Kosco K, Sahajpal NS, Sridhar A, Hauenstein J, Clifford B, Estabrook J, Chitsazan AD, Sahoo T, Iqbal A, Kolhe R, Raca G, Hastie AR, Chaubey A, Analytic Validation of Optical Genome Mapping in Hematological Malignancies Biomedicines11: 2023
PubMed ID: 38137484

External Links

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Gene Cards SLC25A13
Gene Ontology GO:0005386 carrier activity
GO:0005488 binding
GO:0005509 calcium ion binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005887 integral to plasma membrane
GO:0006810 transport
NCBI Gene Gene ID:10165
NCBI GTR 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET
OMIM 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM23989 - B-Lymphocyte
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