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Cellosaurus AMUFAHi001-A (CVCL_A8KW)

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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; 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

Run an STR similarity search on this cell line
Publications

PubMed=34088001; DOI=10.1016/j.scr.2021.102372
Xuan Xu, Liu Dong, Cong Ma, Xiao-Feng Xu, Huan Wu, Jian-Ye Wang, Ping Zhou, Yun-Xia Cao, Zhao-Lian Wei;
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 update19-Dec-2024
Version number6