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Cellosaurus FDCHi003-A-1 (CVCL_A1DG)

[Text version]
Cell line name FDCHi003-A-1
Synonyms iPSx-y-ALMS1-c; FDCHi003-B
Accession CVCL_A1DG
Resource Identification Initiative To cite this cell line use: FDCHi003-A-1 (RRID:CVCL_A1DG)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 428; ALMS1; Simple_corrected; p.Ser1301Ter (c.3902C>A); ClinVar=VCV000264657; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33264725).
  • Mutation; HGNC; 428; ALMS1; Simple; p.Arg2146Ter (c.6436C>T); ClinVar=VCV000210129; Zygosity=Heterozygous (PubMed=33264725).
Disease Alstrom syndrome (NCIt: C84549)
Alstrom syndrome (ORDO: Orphanet_64)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A1DF (FDCHi003-A)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=33264725; DOI=10.1016/j.scr.2020.102089
Ji X.-L., Tang Q.-Y., Tang C.-Q., Wu Z.-Y., Ma L., Guo X.-H., Cheng G.-Q., Chen Y.-J., Yang T., Xiong M., Zhou W.-H.
Generation of an induced pluripotent stem cell line from an Alstrom syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line.
Stem Cell Res. 49:102089-102089(2020)

Cross-references
Cell line databases/resources hPSCreg; FDCHi003-A-1
Encyclopedic resources Wikidata; Q102113816
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5