GM28881
Fibroblast from Skin, Skin
Description:
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR
GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
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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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Subject Type
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trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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European
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Country of Origin
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USA
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Family Member
|
3
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Family History
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N
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Relation to Proband
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father
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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 |
8.16 |
| Passage Frozen |
3 |
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| Gene |
GMPPA |
| Chromosomal Location |
2q35 |
| Allelic Variant 1 |
R318W; Alacrima, achalasia, and impaired intellectual development syndrome |
| Identified Mutation |
c.952C>T, p.(R318W) |
| Remarks |
Unaffected family member; Father of affected child GM28877 (fibro)/ GM28878 (LCL). |
| Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB, A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants American journal of medical genetics Part A188:2438-2442 2022 |
| PubMed ID: 35665995 |
| Cumulative PDL at Freeze |
8.16 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
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