ID   ESi036-A
AC   CVCL_V153
SY   [CRTRd]FiPS3067-4F-9
DR   hPSCreg; ESi036-A
DR   ISCR; 2261
DR   SKIP; SKIP002539
DR   Wikidata; Q54832784
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/VFDeposito_Lineas_-CRTRdFiPS3067-4F-9.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/18/Caracteristicas%20-%20solicitud_deposito-CRTRd-FiPS3067-4F-9.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/18/Anexo%20-%20Anexo_deposito_CRTRd_FiPS3067-4F-9.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 11055; SLC6A8; Simple; p.Pro544Leu (c.1631C>T); ClinVar=VCV000065692; Zygosity=Hemizygous (BNLC).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
SX   Male
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 18
//