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Cellosaurus UMi029-A (CVCL_A1XG)

[Text version]

Cell line name UMi029-A
Synonyms UMNSDF215-001 clone 1
Accession CVCL_A1XG
Resource Identification Initiative To cite this cell line use: UMi029-A (RRID:CVCL_A1XG)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 11122; SMPX; Simple; p.Gly45Valfs*36 (c.133-1G>A); ClinVar=VCV000417903; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=34052664).
Disease X-linked deafness-4 (NCIt: C180844)
X-linked non-syndromic sensorineural deafness type DFN (ORDO: Orphanet_90625)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34052664

Markers:
AmelogeninX,Y
CSF1PO10,11
D3S135816,17
D5S81811,12
D7S8207,11
D8S117910,13
D13S31712
D16S53911,13
D18S5112,18
D21S1129,31
FGA19,24
Penta D11,12
Penta E5,15
TH017,9
TPOX8,11
vWA15

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Publications

PubMed=34052664; DOI=10.1016/j.scr.2021.102405
Dykxhoorn D.M., Tong X.-Y., Gosstola N.C., Liu X.-Z.
Derivation of iPSC line UMi029-A bearing a hearing-loss associated variant in the SMPX gene.
Stem Cell Res. 54:102405-102405(2021)

Cross-references
Cell line databases/resources hPSCreg; UMi029-A
Encyclopedic resources Wikidata; Q105511629
Entry history
Entry creation12-Jan-2021
Last entry update23-Sep-2021
Version number3