GM20265
Fibroblast from Skin, Unspecified
Description:
TRIFUNCTIONAL PROTEIN DEFICIENCY
HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Ethnicity
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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
3.83 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
HADHB |
| Chromosomal Location |
2p23 |
| Allelic Variant 1 |
R28H; TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 2 |
| Identified Mutation |
ARG28HIS |
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| Gene |
HADHB |
| Chromosomal Location |
2p23 |
| Allelic Variant 2 |
R28H; TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 2 |
| Identified Mutation |
ARG28HIS |
| Remarks |
Clinically affected; pregnancy complicated by pregnancy induced hypertension with HELLP syndrome; subject born at 26 6/7 weeks gestation due to fetal distress; birth weight 709 grams; respiratory distress syndrome; metabolic acidosis; hyponatremia; hypochloremia; hypophosphatemia; anemia; feeding intolerance with ileus; hyperbilirubinemia; neutropenia; single umbilical artery; severe hypotension; myocardial dysfunction with poor contractility; renal dysfunction with elevated creatinine; renal ultrasound showed nonspecific bilateral renal cortical disease; subject died in first month of life; total carnitine was 110 micromoles per liter; free carnitine was 39.5 micromoles per liter; acyl to free carnitine ratio was 1.8; acyl carnitine profile showed marked elevation in the C16 and C18 hydroxy acyl carnitines; donor subject is homozygous for a G>A transition at nucleotide 182 in exon 4 of the HADHB gene [182G>A] resulting in a substitution of histidine for arginine at codon 28 [Arg28His (R28H)]. The donor is also homozygous for a presumed polymorphism: 1050A>G which does not change the codon for glutamine317. |
| Raimo S, Zura-Miller G, Fezelinia H, Spruce LA, Zakopoulos I, Mohsen AW, Vockley J, Ischiropoulos H, Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders Redox biology41:101923 2021 |
| PubMed ID: 33725513 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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