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Cellosaurus AMUFAHi001-A (CVCL_A8KW)

[Text version]
Cell line name AMUFAHi001-A
Synonyms AY0913-iPSC
Accession CVCL_A8KW
Resource Identification Initiative To cite this cell line use: AMUFAHi001-A (RRID:CVCL_A8KW)
Comments From: The First Affiliated Hospital of Anhui Medical University; Anhui; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18576; CCNO; Simple; p.Gln88Argfs*8 (c.253_257GGCCC[3]) (c.258_262dupGGCCC) (c.262_263insGGCCC); ClinVar=VCV000139600; Zygosity=Homozygous (PubMed=34088001).
Disease Primary ciliary dyskinesia 29 (NCIt: C172393)
Primary ciliary dyskinesia (ORDO: Orphanet_244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34088001

Markers:
AmelogeninX
CSF1PO11,12
D2S133825,26
D3S135815
D5S81810
D6S104312,14
D7S82011
D8S117913,14
D12S39117,18
D13S31710
D16S5399,12
D18S5114,19
D19S43312,13.2
D21S1128,29,30
FGA23,25
Penta D9,11
Penta E11,21
TH017
TPOX8,12
vWA17,18

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Publications

PubMed=34088001; DOI=10.1016/j.scr.2021.102372
Xu X., Dong L., Ma C., Xu X.-F., Wu H., Wang J.-Y., Zhou P., Cao Y.-X., Wei Z.-L.
Establishment of an induced pluripotent stem cell line from a patient with primary ciliary dyskinesia carrying biallelic mutations in CCNO.
Stem Cell Res. 53:102372-102372(2021)

Cross-references
Cell line databases/resources hPSCreg; AMUFAHi001-A
Biological sample resources BioSamples; SAMEA8409914
Encyclopedic resources Wikidata; Q108819852
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5