ID   ESi086-A-3
AC   CVCL_C1PT
SY   CBiPS8-3F-4 SAMD9 p.I1567M; CBiPS8-3F-4 SAMD9 I1567M; IDIBELi087-A-3
DR   BioSamples; SAMEA110684462
DR   hPSCreg; ESi086-A-3
DR   Wikidata; Q114311373
RX   PubMed=36087523;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+CBiPS8-3F-4+SAMD9+I1567M+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/CBiPS8-3F-4%2520SAMD9%2520I1567M%2520Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:1348; SAMD9; Simple_edited; p.Ile1567Met (c.4701A>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36087523).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 12,13
ST   D21S11: 29,31
ST   D5S818: 9,12
ST   D7S820: 8,9
ST   TH01: 6
ST   TPOX: 8,12
ST   vWA: 18,19
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8KT ! ESi086-A
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 10-04-25; Version: 7
//
RX   PubMed=36087523; DOI=10.1016/j.scr.2022.102906;
RA   Pera, Joan
RA   Castano, Julio
RA   Casamitjana, Joan
RA   Giorgetti, Alessandra
RA   Romero-Moya, Damia
RT   "Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line
RT   (ESi086-A-3), carrying p.I1567M mutation.";
RL   Stem Cell Res. 64:102906-102906(2022).
//