ID   GM27857
AC   CVCL_A2SN
SY   GM27857*B
DR   Coriell; GM27857
DR   Wikidata; Q105507359
CC   Population: Caucasian; Romanian and Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Unexplicit; Ex10-11del; Zygosity=Hemizygous (Coriell=GM27857).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_YE57 ! GM27448
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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