Cellosaurus cell line GM27973 (CVCL

Cell line name

GM27973

Accession

CVCL_A2TS

To cite this cell line use: GM27973 (RRID:CVCL_A2TS)

Comments

Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly169Glyfs*23 (c.507del); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27973).
Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Arg303His (c.908G>A); ClinVar=VCV000284411; Zygosity=Heterozygous (Coriell=GM27973).

Disease

Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_C7LV (GM28575)

Sex of cell

Male

Age at sampling