ID   GM29687
AC   CVCL_F0YH
DR   Coriell; GM29687
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; p.Tyr356Ter (c.1068C>A); ClinVar=VCV000092729; Zygosity=Heterozygous (Coriell=GM29687).
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Hemizygous (Coriell=GM29687).
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125665; Cerebral creatine deficiency syndrome 1
DI   ORDO; Orphanet_52503; X-linked creatine transporter deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6YU ! GM28788
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//