GM25246
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
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Amish
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
0.82 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
WHAMM |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.1264_1270delATAAAAG; WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES |
| |
| Gene |
WDR73 |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.888delT |
| |
| Gene |
WDR73 |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 2 |
; |
| Identified Mutation |
c.888delT |
| Remarks |
Clinically affected; onset of symptoms as an infant; diagnosed at less than 1 year of age; microcephaly; dystonia; seizures; corticovisual impairment; global developmental delay; WDR73 gene tested using high resolution melting analysis; homozygous for c.888delT mutation in the WDR73 gene and heterozygous for a c.1264_1270delATAAAAG mutation in the WHAMM gene [please refer to publication by Jinks et al PMID: 26070982]; surgeries: gastrostomy (jejunostomy) tube placement; assistive devices: wheelchair; medications: diazepam and keppra; mother (GM25249) and father (GM25247/GM25248) are both unaffected heterozygous carriers for the c.888delT mutation in the WDR73 gene; subject has 3 affected siblings and 1 unaffected sibling (not in repository); lymphoblast is GM25245. This fibroblast is a characteristically poor grower and will only be shipped frozen. |
| 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 |
3.97 |
| Passage Frozen |
7 |
| 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 |
Commercially-treated plastic |
| Supplement |
- |
|