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). |
| 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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