Cellosaurus cell line GM25248 (CVCL

Cellosaurus GM25248 (CVCL_CX84)

Cross-references
Cell line name	GM25248
Accession	CVCL_CX84
Resource Identification Initiative	To cite this cell line use: GM25248 (RRID:CVCL_CX84)
Comments	Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Heterozygous (PubMed=26070982).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_CX83 ! GM25247
Sex of cell	Male
Age at sampling	28Y
Category	Finite cell line
Publications	PubMed=26070982; DOI=10.1093/brain/awv153; PMCID=PMC4511861 Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple, Brian Harding, Peter Crino, Agnes Borge Fogo, Olivia Wenger, Bao-Zhong Xin, Alanna E. Koehler, Madeleine H. McGlincy, Margaret Mary Provencher ...Show all 30 authors... , Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold E. Cross, Gaurav V. Harlalka, Matthew Edward Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua Zaritsky, Kenneth G. Campellone, D. Holmes Morton, Heng Wang, Andrew Crosby, Kevin A. Strauss; Show fewer authors Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138:2173-2190(2015)
Cell line collections (Providers)	Coriell; GM25248
Encyclopedic resources	Wikidata; Q54853848
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10