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Cellosaurus CRICKi001-A (CVCL_A5EU)

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Cell line name CRICKi001-A
Synonyms iFCI001
Accession CVCL_A5EU
Resource Identification Initiative To cite this cell line use: CRICKi001-A (RRID:CVCL_A5EU)
Comments From: The Francis Crick Institute Limited; London; United Kingdom.
Population: Caucasian.
Derived from site: In situ; Hair root; UBERON=UBERON_0000329.
Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations
  • Mutation; HGNC; HGNC:11100; SMARCA4; Simple; p.Arg1203Cys (c.3607C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33799280).
Disease Autism spectrum disorder (NCIt: C88412)
Coffin-Siris syndrome (NCIt: C35321)
Coffin-Siris syndrome (ORDO: Orphanet_1465)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5-9Y
Category Induced pluripotent stem cell
Publications

PubMed=33799280; DOI=10.1016/j.scr.2021.102304; PMCID=PMC8164104
Liani Gasparini Devito, Lyn E. Healy, Shehla Mohammed, Francois Guillemot, Cristina Dias;
Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
Stem Cell Res. 53:102304-102304(2021)

Cross-references
Cell line databases/resources hPSCreg; CRICKi001-A
Biological sample resources BioSamples; SAMEA13299074
Encyclopedic resources Wikidata; Q107114720
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number8