GM25248
Fibroblast from Skin, Arm
Description:
NEPHROCEREBELLAR SYNDROME
GALLOWAY-MOWAT SYNDROME; GAMOS
WD REPEAT-CONTAINING PROTEIN 73; WDR73
WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES; WHAMM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Arm
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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, Arm
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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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Amish
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Country of Origin
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USA
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Family Member
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2
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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 |
4.45 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
WDR73 |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.888delT |
| Remarks |
Unaffected carrier of a c.888delT mutation in the WDR73 gene; father of affected daughter (GM25245); lymph is GM25247. |
| Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA, Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 Brain : a journal of neurology138:2173-90 2014 |
| PubMed ID: 26070982 |
| Cumulative PDL at Freeze |
4.45 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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