GM27353
Fibroblast from Skin, Skin
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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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, Skin
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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French, Italian
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Country of Origin
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FRANCE
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Family Member
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1
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Family History
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N
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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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ISCN
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46,XY[25].arr(1-22)x2,(X,Y)x1
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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 |
5.61 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
CHAMP1 |
| Chromosomal Location |
13q34 |
| Allelic Variant 1 |
616327.0002; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 |
| Identified Mutation |
c.1489C>T (p.Arg497*) |
| Remarks |
Clinically affected; biometric at 5th percentile at 28 weeks gestation; vaginal delivery at 39 weeks, 4 days; issues at birth with sucking and feeding; diagnosed at 23 months by geneticist; symptom onset at 2 months of age by a geneticist; minor dysmorphologic features: thin upper lip; short philtrum; cyanosis with eye contact loss episodes; gaze freezes; microcephaly; divergent strabism; hypertonia; siezures (treated by Keppra then Depakine); friendly behavior, but can bite or pull hair when frustrated; global developmental delay; EEG showed non-epileptiform abnormalities (slow activity, few multifocal slow waves); moderate autism spectrum disorder (ASD); developmental milestones: sat at 12 months, crawled at 14 months, cruised at 18 months, walked at 39 months, first words at 14 months; normal MRI; FISH and aCGH testing; microarray oligonucleotide SNP (GRCh37, hg19) result: arr(1-22)x2,(XY)x1; exome sequencing with confirmation by Sanger revealed a de novo, autosomal dominant, heterozygous mutation in CHAMP1 resulting in a premature stop codon: c.1489C>T (p.Arg497*), NM_032436.2, Chr13 (GRCh37):g.115090806C>T; assistive devices include braces and orthotics; treatment and management include: physical therapy, occupational therapy, psychological therapy, speech language therapy, eye therapy, cognitive therapy (Feuerstein method); medications include: esomeprazole (valproic acid from 4 months to 3 years old), macrogol, melatonin, and amitriptyline, forlax, laroxyl; no family history of disease; same subject as GM27412 (lymph) and GM27860 (stem cell). |
| Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K, CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency Scientific reports14:31904 2024 |
| PubMed ID: 39738383 |
| Cumulative PDL at Freeze |
5.61 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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