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Cellosaurus GM27880 (CVCL_A2TB)

[Text version]
Cell line name GM27880
Synonyms GM27880*C; 1123-FOXG1-LOF-Hom#A8
Accession CVCL_A2TB
Resource Identification Initiative To cite this cell line use: GM27880 (RRID:CVCL_A2TB)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple_edited; p.Ser19Glnfs*120 (c.53_54insT); Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM27880).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2TY (S1123-01 iPS #3)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=37071670; DOI=10.1089/crispr.2022.0050; PMCID=PMC10123805
Panda A., Suvakov M., Mariani J., Drucker K.L., Park Y., Jang Y., Kollmeyer T.M., Sarkar G., Bae T., Kim J.J., Yoon W.H., Jenkins R.B., Vaccarino F.M., Abyzov A.
Clonally selected lines after CRISPR-Cas editing are not isogenic.
CRISPR J. 6:176-182(2023)

Cross-references
Cell line collections (Providers) Coriell; GM27880
Encyclopedic resources Wikidata; Q105507379
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7