Cellosaurus cell line GM27300 (CVCL

Cell line name

GM27300

Accession

CVCL_WP04

To cite this cell line use: GM27300 (RRID:CVCL_WP04)

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:13830; CNTNAP2; Simple; p.Ser269Asn (c.806G>A); ClinVar=VCV000373714; Zygosity=Heterozygous (from autologous cell line GM27325).
Mutation; HGNC; HGNC:3791; FOLR1; Simple; c.493+2T>C (IVS4+2T>C); ClinVar=VCV000095750; Zygosity=Heterozygous (from autologous cell line GM27325).
Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly224Ser (c.670G>A); ClinVar=VCV000167092; Zygosity=Heterozygous (Coriell=GM27300).
Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Pro8Thr (c.22C>A); ClinVar=VCV000205598; Zygosity=Heterozygous (from autologous cell line GM27325).

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_C7LX (GM28577)

Originate from same individual

CVCL_YN13 ! GM27325

Sex of cell

Female

Age at sampling