ID   GM28293
AC   CVCL_D6XA
DR   Coriell; GM28293
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Gly421Alafs*35 (c.1260_1281del); ClinVar=VCV000987004; Zygosity=Mosaic; Note=Less than 10% of the cells (Coriell=GM28293).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6XB ! GM28295
SX   Female
AG   35Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//