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Cellosaurus UMi028-A-1 (CVCL_A1MI)

[Text version]
Cell line name UMi028-A-1
Synonyms C1661_C5; C1661 clone C5
Accession CVCL_A1MI
Resource Identification Initiative To cite this cell line use: UMi028-A-1 (RRID:CVCL_A1MI)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15459; P2RX2; Simple_edited; p.Val60Leu (c.178G>T); ClinVar=VCV000155762; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33038743).
Disease Deafness, autosomal dominant 41 (NCIt: C175700)
Autosomal dominant non-syndromic sensorineural deafness type DFNA (ORDO: Orphanet_90635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A1MH (UMi028-A)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33038743

Markers:
AmelogeninX,Y
CSF1PO10,12
D3S135816,17
D5S81812,13
D7S82010,12
D8S117912,15
D13S31712,13
D16S53911,12
D18S5118,19
D21S1130.2,32.2
FGA23
Penta D12,13
Penta E10,14
TH016,7
TPOX8,12
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=33038743; DOI=10.1016/j.scr.2020.102017
Gosstola N.C., Huang Z.-H., Tong X.-Y., Nourbakhsh A., Chen Z.-Y., Dykxhoorn D.M., Liu X.-Z.
Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G >T)) in the P2RX2 gene.
Stem Cell Res. 49:102017-102017(2020)

Cross-references
Cell line databases/resources hPSCreg; UMi028-A-1
Encyclopedic resources Wikidata; Q102115078
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7